A total 2073 pathogenic variants reported in gene partner and localizer of BRCA2 (PALB2)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter) SNV
Germline
Chr16:23634893 Pathogenic/Likely pathogenic Fanconi anemia complementation group N
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Multiple Submitters
No Conflicts
CA251717 rs_118203997

13 SubmittersRCV000001302RCV000217204RCV000235772RCV000476387RCV005053882

NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) SNV
Germline
Chr16:23603471 Pathogenic/Likely pathogenic Fanconi anemia complementation group N
Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Pancreatic cancer, susceptibility to, 3
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5
Inherited breast cancer and ovarian cancer
Hereditary breast ovarian cancer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA151250 rs_118203998

25 SubmittersRCV000001304RCV000114634RCV000121742RCV000129158RCV000212830RCV001355428RCV004528063RCV005053883RCV005430457RCV005623061

NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter) SNV
Germline
Chr16:23623003 Pathogenic Fanconi anemia complementation group N
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Multiple Submitters
No Conflicts
CA164468 rs_118203999

9 SubmittersRCV000001306RCV000129469RCV000662710RCV000657596RCV005053884

NM_024675.4(PALB2):c.2057G>A (p.Arg686Lys) SNV
Germline
Chr16:23630097 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA279492933 rs_267604470

8 SubmittersRCV000774635RCV000704434RCV001572169RCV003226185RCV004537269

NC_000016.10:g.23641315C>G SNV
Germline
Chr16:23641315 Conflicting classifications of pathogenicity Fanconi anemia complementation group N
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA269467 rs_138200248

4 SubmittersRCV000282144RCV000374410RCV001030094RCV000829438

NM_024675.4(PALB2):c.1000T>G (p.Tyr334Asp) SNV
Germline
Chr16:23635546 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Condition: not provided
Familial cancer of breast
not specified
Criteria Provided
Conflicting Classifications
CA193504 rs_202241382

8 SubmittersRCV000165476RCV000402501RCV000483117RCV001087026RCV004595925

NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys) SNV
Germline
Chr16:23635545 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary cancer
not specified
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA288383 rs_200620434

22 SubmittersRCV000114449RCV000116060RCV000212784RCV000415191RCV000781695RCV001798290RCV003483471RCV004529916RCV005359039

NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) SNV
Germline
Chr16:23635536 Conflicting classifications of pathogenicity Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
Criteria Provided
Conflicting Classifications
CA151212 rs_45494092

28 SubmittersRCV000114450RCV000121752RCV000127306RCV001116860RCV000755592RCV001354445RCV001798291

NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter) SNV
Germline
Chr16:23635519 Pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 5
Hereditary breast ovarian cancer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA151215 rs_180177097

10 SubmittersRCV000215551RCV001030193RCV001040014RCV005053906RCV003155912

NM_024675.4(PALB2):c.110G>A (p.Arg37His) SNV
Germline
Chr16:23637951 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA288386 rs_202194596

14 SubmittersRCV000114460RCV000116061RCV000212768RCV000780571RCV002483177RCV004739369

NM_024675.4(PALB2):c.1145G>T (p.Ser382Ile) SNV
Germline
Chr16:23635401 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA269483 rs_515726063

11 SubmittersRCV000114461RCV000483203RCV000567033RCV002483178

NM_024675.4(PALB2):c.1194G>A (p.Val398=) SNV
Germline
Chr16:23635352 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group N
Condition: not provided
Breast and/or ovarian cancer
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA151219 rs_61755173

29 SubmittersRCV000114462RCV000127307RCV000212786RCV000327932RCV000588666RCV001170350RCV001357080RCV005234992

NM_024675.4(PALB2):c.11C>T (p.Pro4Leu) SNV
Germline
Chr16:23641147 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Esophageal atresia/tracheoesophageal fistula
Fanconi anemia complementation group N
Condition: not provided
Breast and/or ovarian cancer
PALB2-related disorder
Malignant tumor of breast
not specified
Criteria Provided
Conflicting Classifications
CA288392 rs_45619737

15 SubmittersRCV000116063RCV000114464RCV000515208RCV000590674RCV001798292RCV004739370RCV001358373RCV001797625

NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr) SNV
Germline
Chr16:23635296 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA288398 rs_45510998

21 SubmittersRCV000114466RCV000116065RCV000590540RCV001255214RCV003483472RCV004739371RCV005394371

NM_024675.4(PALB2):c.13C>T (p.Pro5Ser) SNV
Germline
Chr16:23641145 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA269492 rs_377085677

17 SubmittersRCV000114472RCV000116068RCV000589509RCV001818256RCV004739372RCV005359040

NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg) SNV
Germline
Chr16:23635002 Conflicting classifications of pathogenicity Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial ovarian cancer
Breast and/or ovarian cancer
PALB2-related disorder
Hereditary cancer
Criteria Provided
Conflicting Classifications
CA163908 rs_515726072

19 SubmittersRCV000114479RCV000235723RCV000129175RCV000586359RCV001355376RCV003149776RCV004528789RCV004700413

NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter) SNV
Germline
Chr16:23634913 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Gastric cancer
PALB2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA167823 rs_180177103

14 SubmittersRCV000114484RCV000131237RCV000255843RCV001357967RCV003162529RCV004529917

NM_024675.4(PALB2):c.1699C>T (p.His567Tyr) SNV
Germline
Chr16:23630455 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 5
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA288416 rs_370422990

18 SubmittersRCV000114495RCV000116072RCV001292820RCV000588850RCV001171429RCV005359042RCV004529918

NM_024675.4(PALB2):c.196C>T (p.Gln66Ter) SNV
Germline
Chr16:23637865 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Multiple Submitters
No Conflicts
CA187393 rs_180177083

18 SubmittersRCV000114503RCV000163078RCV000235795RCV000588616RCV001798296RCV005016383

NM_024675.4(PALB2):c.2200A>T (p.Thr734Ser) SNV
Germline
Chr16:23629954 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Malignant tumor of breast
Endometrial carcinoma
Criteria Provided
Conflicting Classifications
CA288435 rs_45543843

13 SubmittersRCV000114515RCV000116081RCV000586054RCV000855600RCV001356351RCV001358251

NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter) SNV
Germline
Chr16:23629831 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Multiple Submitters
No Conflicts
CA192039 rs_180177111

13 SubmittersRCV000114521RCV000164897RCV000413982RCV001355683RCV003155914RCV005053908

NM_024675.4(PALB2):c.232G>A (p.Val78Ile) SNV
Germline
Chr16:23636314 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA288441 rs_515726085

17 SubmittersRCV000114522RCV000116083RCV000212771RCV000587015RCV001356931RCV003149780RCV004529921

NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter) SNV
Germline
Chr16:23629768 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group N
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Criteria Provided
Multiple Submitters
No Conflicts
CA163823 rs_180177112

14 SubmittersRCV000114524RCV000129116RCV000236024RCV001781442RCV003330435

NM_024675.4(PALB2):c.23C>T (p.Pro8Leu) SNV
Germline
Chr16:23641135 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA299799 rs_150390726

13 SubmittersRCV000114527RCV000160872RCV000589826RCV002225301RCV004529922RCV005359045

NM_024675.4(PALB2):c.2514+3A>G SNV
Germline
Chr16:23629637 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Breast and/or ovarian cancer
Familial pancreatic carcinoma
Criteria Provided
Conflicting Classifications
CA269537 rs_515726088

9 SubmittersRCV000114530RCV000160843RCV000573333RCV005016384RCV003149781RCV005359046

PALB2:c.2515-1G>T SNV
Germline
Chr16:23629276 Pathogenic/Likely pathogenic Pancreatic cancer, susceptibility to, 3
Condition: not provided
Familial cancer of breast
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA114879 rs_587776417

7 SubmittersRCV000001312RCV000133479RCV001030317RCV001171466RCV002426654

NM_024675.4(PALB2):c.2559C>T (p.Gly853=) SNV
Germline
Chr16:23629231 Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Reviewed By Expert Panel
CA269540 rs_180177115

12 SubmittersRCV000114536RCV000116088RCV000212813RCV001171467

NM_024675.4(PALB2):c.2586+10A>G SNV
Germline
Chr16:23629194 Conflicting classifications of pathogenicity Familial cancer of breast
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Endometrial carcinoma
Breast and/or ovarian cancer
Criteria Provided
Conflicting Classifications
CA292645 rs_373321719

15 SubmittersRCV000114537RCV000127295RCV000588544RCV000580770RCV001118200RCV001358400RCV003149782

NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys) SNV
Germline
Chr16:23626310 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group N
not specified
Familial ovarian cancer
Familial cancer of breast
Fanconi anemia complementation group N
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA167879 rs_45476495

22 SubmittersRCV000114549RCV000131257RCV000587708RCV001118198RCV000483553RCV003483473RCV004739374RCV005016385

NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter) SNV
Germline
Chr16:23626266 Pathogenic Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Multiple Submitters
No Conflicts
CA269561 rs_180177122

14 SubmittersRCV000114552RCV000255170RCV000562748RCV002498481RCV004782240RCV005394374

NM_024675.4(PALB2):c.2749-18C>T SNV
Germline
Chr16:23624112 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Criteria Provided
Conflicting Classifications
CA269568 rs_182194007

13 SubmittersRCV000114555RCV000127298RCV000212817RCV000679766RCV003149784RCV004764763

NM_024675.4(PALB2):c.2752C>T (p.Pro918Ser) SNV
Germline
Chr16:23624091 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA192533 rs_515726094

11 SubmittersRCV000114556RCV000165106RCV000478088RCV001171432

NM_024675.4(PALB2):c.2761C>T (p.Gln921Ter) SNV
Germline
Chr16:23624082 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA269569 rs_180177124

4 SubmittersRCV001030342RCV003162530

NM_024675.4(PALB2):c.2773G>C (p.Val925Leu) SNV
Germline
Chr16:23624070 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Condition: not provided
Breast and/or ovarian cancer
Criteria Provided
Conflicting Classifications
CA164110 rs_180177125

13 SubmittersRCV000114558RCV000129279RCV000764047RCV000235847RCV001798299

NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) SNV
Germline
Chr16:23624027 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
not specified
Malignant tumor of breast
Condition: not provided
PALB2-related disorder
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Criteria Provided
Conflicting Classifications
CA151239 rs_45478192

34 SubmittersRCV000114561RCV000116092RCV000306515RCV000417395RCV001356702RCV000586156RCV004528790RCV001170349RCV004760375

NM_024675.4(PALB2):c.2835-1G>C SNV
Germline
Chr16:23623131 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Multiple Submitters
No Conflicts
CA331795 rs_515726099

9 SubmittersRCV000114567RCV000220116RCV001171468RCV004589552RCV005016386

NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro) SNV
Germline
Chr16:23623114 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA161355 rs_149522412

21 SubmittersRCV000121763RCV000129725RCV001030355RCV000397940RCV000589520RCV005359047

NM_024675.4(PALB2):c.2869A>C (p.Lys957Gln) SNV
Germline
Chr16:23623096 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
not specified
Criteria Provided
Conflicting Classifications
CA299741 rs_515726103

13 SubmittersRCV000114573RCV000160848RCV000212818RCV000764046RCV003226198

NM_024675.4(PALB2):c.2903C>G (p.Ala968Gly) SNV
Germline
Chr16:23623062 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA167762 rs_369132015

14 SubmittersRCV000114574RCV000131197RCV000215879RCV001704012RCV005394375RCV004545746

NM_024675.4(PALB2):c.298C>T (p.Leu100Phe) SNV
Germline
Chr16:23636248 Conflicting classifications of pathogenicity Familial cancer of breast
Fanconi anemia complementation group N
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
PALB2-related disorder
Pancreatic cancer, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Breast and/or ovarian cancer
Criteria Provided
Conflicting Classifications
CA288454 rs_61756147

18 SubmittersRCV000114577RCV001119843RCV000116095RCV000212772RCV001192907RCV004528791RCV001355228RCV001249253RCV003492442

NM_024675.4(PALB2):c.3056T>C (p.Val1019Ala) SNV
Germline
Chr16:23621419 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA168345 rs_376619846

11 SubmittersRCV000114589RCV000131550RCV000235226RCV001192771RCV005359048

NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter) SNV
Germline
Chr16:23621362 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 5
Breast and/or ovarian cancer
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
NICE approved PARP inhibitor treatment
Inherited breast cancer and ovarian cancer
Inherited ovarian cancer (without breast cancer)
Reviewed By Expert Panel
CA251004 rs_180177132

34 SubmittersRCV000114591RCV000116096RCV000212822RCV000588093RCV001171469RCV001535480RCV003389455RCV003492443RCV004528792RCV005016387RCV004577322RCV004584191RCV004584192

NM_024675.4(PALB2):c.3128G>C (p.Gly1043Ala) SNV
Germline
Chr16:23614077 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA168501 rs_377713277

14 SubmittersRCV000114598RCV000131630RCV000485289RCV000780560RCV002483180

NM_024675.4(PALB2):c.315G>C (p.Glu105Asp) SNV
Germline
Chr16:23636231 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA288463 rs_515726108

17 SubmittersRCV000114600RCV000116099RCV000212773RCV001174951RCV005359049RCV002490766RCV004529924

NM_024675.4(PALB2):c.3202-1G>C SNV
Germline
Chr16:23608013 Pathogenic/Likely pathogenic Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA269608 rs_515726111

9 SubmittersRCV000114605RCV000160851RCV002321588

NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu) SNV
Germline
Chr16:23607963 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Condition: not provided
Malignant tumor of breast
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
not specified
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA239946 rs_62625271

17 SubmittersRCV000114610RCV000160852RCV001116749RCV000656940RCV001358132RCV000764043RCV003493439RCV004739377

NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) SNV
Germline
Chr16:23607958 Pathogenic/Likely pathogenic Pancreatic cancer, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Gastric cancer
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 5
PALB2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA211207 rs_587776527

24 SubmittersRCV000114612RCV000212825RCV000160853RCV000168017RCV001030644RCV002307393RCV005003472RCV003162531RCV003149788RCV003315406RCV004528793

NM_024675.4(PALB2):c.3307G>A (p.Val1103Met) SNV
Germline
Chr16:23607907 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 5
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA288475 rs_201657283

16 SubmittersRCV000116103RCV000114616RCV001030643RCV000656941RCV000212827RCV005359050RCV004739378

NM_024675.4(PALB2):c.3321G>A (p.Leu1107=) SNV
Germline
Chr16:23607893 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA269613 rs_515726113

4 SubmittersRCV001030409RCV001019988

NM_024675.4(PALB2):c.3350+11A>G SNV
Germline
Chr16:23607853 Conflicting classifications of pathogenicity not specified
Familial cancer of breast
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA269616 rs_515726114

5 SubmittersRCV000424366RCV001030411RCV002466432

NM_024675.4(PALB2):c.3350+4A>G SNV
Germline
Chr16:23607860 Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
PALB2-related disorder
PALB2-related cancer predisposition
Malignant tumor of breast
Reviewed By Expert Panel
CA269618 rs_180177136

17 SubmittersRCV000114621RCV000213830RCV000433683RCV003315407RCV004528794RCV005359051RCV004798779

NM_024675.4(PALB2):c.3356T>C (p.Leu1119Pro) SNV
Germline
Chr16:23603664 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA331796 rs_515726116

8 SubmittersRCV000114623RCV000481742RCV000574823RCV005016389

NM_024675.4(PALB2):c.3428T>A (p.Leu1143His) SNV
Germline
Chr16:23603592 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
bilateral breast cancer
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
not specified
Criteria Provided
Conflicting Classifications
CA288478 rs_62625284

22 SubmittersRCV000114625RCV000116104RCV000585950RCV001004833RCV000764041RCV004528795RCV005394376RCV001804169

NM_024675.4(PALB2):c.344G>T (p.Gly115Val) SNV
Germline
Chr16:23636202 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
PALB2-related disorder
Malignant tumor of breast
Breast and/or ovarian cancer
Criteria Provided
Conflicting Classifications
CA193686 rs_145598272

14 SubmittersRCV000114628RCV000165559RCV000589320RCV004528796RCV001357627RCV003149789

NM_024675.4(PALB2):c.400G>A (p.Asp134Asn) SNV
Germline
Chr16:23636146 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Criteria Provided
Conflicting Classifications
CA163622 rs_139555085

17 SubmittersRCV000114637RCV000128994RCV000200990RCV000590187RCV001798302RCV002225308

NM_024675.4(PALB2):c.48+1G>C SNV
Germline
Chr16:23641109 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA269629 rs_515726118

4 SubmittersRCV000213648RCV000236723RCV001030106

NM_024675.4(PALB2):c.503C>A (p.Ser168Ter) SNV
Germline
Chr16:23636043 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA269633 rs_515726122

7 SubmittersRCV000114642RCV000562468RCV003332116

NM_024675.4(PALB2):c.505C>A (p.Leu169Ile) SNV
Germline
Chr16:23636041 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA269636 rs_180177086

3 SubmittersRCV001030154RCV002336247

NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) SNV
Germline
Chr16:23638125 Conflicting classifications of pathogenicity Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Condition: not provided
Hereditary breast ovarian cancer syndrome
Criteria Provided
Conflicting Classifications
CA161315 rs_138789658

25 SubmittersRCV000114647RCV000121743RCV000129207RCV000376271RCV000440737RCV002225309

NM_024675.4(PALB2):c.620C>G (p.Pro207Arg) SNV
Germline
Chr16:23635926 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA331799 rs_515726125

7 SubmittersRCV000114649RCV000776330RCV001572249

NM_024675.4(PALB2):c.629C>T (p.Pro210Leu) SNV
Germline
Chr16:23635917 Conflicting classifications of pathogenicity not specified
Breast and/or ovarian cancer
Fanconi anemia complementation group N
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Criteria Provided
Conflicting Classifications
CA161333 rs_57605939

23 SubmittersRCV000121750RCV001798303RCV000306267RCV000114650RCV000131969RCV001705820RCV002225310RCV001358034

NM_024675.4(PALB2):c.656A>G (p.Asp219Gly) SNV
Germline
Chr16:23635890 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary cancer
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA294094 rs_45594034

19 SubmittersRCV000114652RCV000129603RCV000589693RCV000855601RCV003492444RCV004542814RCV005359053

NM_024675.4(PALB2):c.751C>T (p.Gln251Ter) SNV
Germline
Chr16:23635795 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Breast and/or ovarian cancer
Criteria Provided
Multiple Submitters
No Conflicts
CA269645 rs_180177091

16 SubmittersRCV000114657RCV000210097RCV000413603RCV004813057RCV004796018RCV003492446

NM_024675.4(PALB2):c.814G>A (p.Glu272Lys) SNV
Germline
Chr16:23635732 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Condition: not provided
Criteria Provided
Conflicting Classifications
CA193995 rs_515726127

11 SubmittersRCV000114664RCV000165689RCV004595926RCV002483181RCV003477491

NM_024675.4(PALB2):c.897T>C (p.Ser299=) SNV
Germline
Chr16:23635649 Conflicting classifications of pathogenicity Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group N
Breast and/or ovarian cancer
Criteria Provided
Conflicting Classifications
CA269660 rs_180177095

11 SubmittersRCV000114668RCV000419649RCV000566337RCV000858848RCV001118310RCV001798304

NM_024675.4(PALB2):c.899C>T (p.Thr300Ile) SNV
Germline
Chr16:23635647 Conflicting classifications of pathogenicity Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA161336 rs_528541334

14 SubmittersRCV000114669RCV000121751RCV000219489RCV001354467RCV001284670

NM_024675.4(PALB2):c.94C>G (p.Leu32Val) SNV
Germline
Chr16:23638084 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Fanconi anemia complementation group N
Malignant tumor of breast
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA161318 rs_151316635

20 SubmittersRCV000114673RCV000116117RCV000121744RCV000656932RCV001119845RCV001357251RCV004529927RCV005016391

NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) SNV
Germline
Chr16:23635306 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Gastric cancer
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 1
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Criteria Provided
Multiple Submitters
No Conflicts
CA288395 rs_180177100

29 SubmittersRCV000116064RCV000123331RCV000254674RCV001354096RCV000588541RCV003162546RCV004529946RCV004555854RCV004668783RCV005003478

NM_024675.4(PALB2):c.1347A>G (p.Lys449=) SNV
Germline
Chr16:23635199 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
not specified
Criteria Provided
Conflicting Classifications
CA288401 rs_587780205

8 SubmittersRCV000116066RCV000590184RCV001087089RCV001356241RCV001818286

NM_024675.4(PALB2):c.1564C>T (p.Pro522Ser) SNV
Germline
Chr16:23634982 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Malignant tumor of breast
Criteria Provided
Conflicting Classifications
CA288407 rs_373876101

10 SubmittersRCV000116069RCV000205286RCV000563884RCV001192765RCV001357507

NM_024675.4(PALB2):c.1697G>A (p.Arg566His) SNV
Germline
Chr16:23630457 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Breast-ovarian cancer, familial, susceptibility to, 5
Breast-ovarian cancer, familial, susceptibility to, 2
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA288413 rs_144617793

16 SubmittersRCV000116071RCV000229982RCV001030254RCV000564017RCV005016399RCV005359104RCV005623303RCV004542828

NM_024675.4(PALB2):c.1733G>T (p.Ser578Ile) SNV
Germline
Chr16:23630421 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA288419 rs_587780207

6 SubmittersRCV000116074RCV000474485RCV000567502RCV002483190

NM_024675.4(PALB2):c.194C>T (p.Pro65Leu) SNV
Germline
Chr16:23637867 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Condition: not provided
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA161321 rs_62625272

21 SubmittersRCV000116075RCV000121745RCV000168167RCV000585283RCV001030125

NM_024675.4(PALB2):c.1987C>T (p.Arg663Cys) SNV
Germline
Chr16:23630167 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Familial pancreatic carcinoma
Criteria Provided
Conflicting Classifications
CA288422 rs_62625277

12 SubmittersRCV000116076RCV000212804RCV000410272RCV002509225RCV005365003

NM_024675.4(PALB2):c.2078A>G (p.His693Arg) SNV
Germline
Chr16:23630076 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA288425 rs_587780208

4 SubmittersRCV000116077RCV000576106RCV000467228

NM_024675.4(PALB2):c.2230G>A (p.Glu744Lys) SNV
Germline
Chr16:23629924 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Criteria Provided
Conflicting Classifications
CA288438 rs_62625278

8 SubmittersRCV000116082RCV000234885RCV000635763RCV002265611

NM_024675.4(PALB2):c.2379C>T (p.Gly793=) SNV
Germline
Chr16:23629775 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Familial cancer of breast
Condition: not provided
not specified
Malignant tumor of breast
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA288444 rs_377626805

16 SubmittersRCV000116084RCV000292657RCV000200135RCV000212811RCV000780574RCV001354155RCV004542829

NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys) SNV
Germline
Chr16:23629645 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group N
Familial cancer of breast
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
PALB2-related disorder
Malignant tumor of breast
Criteria Provided
Conflicting Classifications
CA161349 rs_587778587

19 SubmittersRCV000121758RCV000116087RCV000656936RCV000318539RCV000989556RCV001798359RCV001030647RCV004529947RCV001356207

NM_024675.4(PALB2):c.2846G>A (p.Cys949Tyr) SNV
Germline
Chr16:23623119 Conflicting classifications of pathogenicity not specified
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA161352 rs_587778588

8 SubmittersRCV000121761RCV000635686RCV000656938RCV001804846RCV005016400

NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr) SNV
Germline
Chr16:23623068 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Triple-negative breast cancer
Condition: not provided
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N
not specified
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA210470 rs_587780214

18 SubmittersRCV000116094RCV000204848RCV000202384RCV000212819RCV000764045RCV002267857RCV004760383

NM_024675.4(PALB2):c.3132A>C (p.Gln1044His) SNV
Germline
Chr16:23614073 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA288460 rs_587780216

3 SubmittersRCV000116098RCV000454267RCV000635880

NM_024675.4(PALB2):c.353T>C (p.Ile118Thr) SNV
Germline
Chr16:23636193 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Criteria Provided
Conflicting Classifications
CA288485 rs_370404126

10 SubmittersRCV000116107RCV000212774RCV000211074RCV002222397

NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) SNV
Germline
Chr16:23603471 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 1
PALB2-related disorder
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Reviewed By Expert Panel
CA288488 rs_118203998

22 SubmittersRCV000116108RCV000200012RCV000587765RCV000212831RCV000763376RCV003493446RCV004528809RCV005394394

NM_024675.4(PALB2):c.551G>C (p.Ser184Thr) SNV
Germline
Chr16:23635995 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA288489 rs_587780220

5 SubmittersRCV000116109RCV000559113RCV001024216RCV002498499

NM_024675.4(PALB2):c.571C>G (p.Pro191Ala) SNV
Germline
Chr16:23635975 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA288492 rs_587780221

5 SubmittersRCV000116110RCV000211086RCV000774642

NM_024675.4(PALB2):c.856C>T (p.Pro286Ser) SNV
Germline
Chr16:23635690 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA288495 rs_45585833

9 SubmittersRCV000567956RCV000410687RCV001174832RCV000766543RCV005394395

NM_024675.4(PALB2):c.928A>G (p.Ser310Gly) SNV
Germline
Chr16:23635618 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
not specified
Breast and/or ovarian cancer
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA288501 rs_45561331

12 SubmittersRCV000116115RCV000200242RCV000212782RCV001354315RCV001290583RCV003149811RCV004528810

NM_024675.4(PALB2):c.949A>C (p.Thr317Pro) SNV
Germline
Chr16:23635597 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA288504 rs_587780223

8 SubmittersRCV000116116RCV000212783RCV000472765RCV002483191

NM_024675.4(PALB2):c.1054G>C (p.Glu352Gln) SNV
Germline
Chr16:23635492 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA167241 rs_201035780

10 SubmittersRCV000119209RCV000130853RCV000858055RCV001356550

NM_024675.4(PALB2):c.2456A>G (p.Lys819Arg) SNV
Germline
Chr16:23629698 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA161343 rs_587778585

10 SubmittersRCV000121755RCV000129773RCV000410682RCV000657026

NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln) SNV
Germline
Chr16:23629896 Conflicting classifications of pathogenicity not specified
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA161346 rs_587778586

14 SubmittersRCV000121757RCV000195647RCV000588075RCV000561765

NM_024675.4(PALB2):c.12T>C (p.Pro4=) SNV
Germline
Chr16:23641146 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA299688 rs_567706422

14 SubmittersRCV000123332RCV000160826RCV000212765RCV000858740RCV001121824

NM_024675.4(PALB2):c.1637T>C (p.Val546Ala) SNV
Germline
Chr16:23634909 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
PALB2-related disorder
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA332967 rs_148647206

9 SubmittersRCV000123333RCV000215046RCV000589758RCV004739425RCV002492444

NM_024675.4(PALB2):c.2087C>T (p.Thr696Met) SNV
Germline
Chr16:23630067 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Breast and/or ovarian cancer
Criteria Provided
Conflicting Classifications
CA170045 rs_587780820

11 SubmittersRCV000123336RCV000132543RCV001030277RCV004530058RCV005016426RCV003492552

NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe) SNV
Germline
Chr16:23629865 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA294144 rs_373478248

22 SubmittersRCV000123338RCV000130052RCV000212808RCV000587948RCV001357632RCV001798407RCV004528842

NM_024675.4(PALB2):c.2571G>A (p.Leu857=) SNV
Germline
Chr16:23629219 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA332973 rs_587780821

6 SubmittersRCV000123339RCV000486288RCV000560973RCV001535717

NM_024675.4(PALB2):c.2753C>A (p.Pro918Gln) SNV
Germline
Chr16:23624090 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA332974 rs_587780822

10 SubmittersRCV000123341RCV000220315RCV000507163RCV001546031RCV004739426

NM_024675.4(PALB2):c.722A>G (p.Asn241Ser) SNV
Germline
Chr16:23635824 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA168406 rs_587780823

5 SubmittersRCV000123343RCV000131587

NM_024675.4(PALB2):c.769G>A (p.Gly257Ser) SNV
Germline
Chr16:23635777 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 5
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
PALB2-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA194606 rs_587780824

9 SubmittersRCV000123344RCV000165945RCV003226206RCV003492553RCV005394457RCV004530060RCV004589611

NM_024675.4(PALB2):c.1697G>C (p.Arg566Pro) SNV
Germline
Chr16:23630457 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA163866 rs_144617793

7 SubmittersRCV000129134RCV001775617RCV000476315RCV005394468

NM_024675.4(PALB2):c.2712G>A (p.Trp904Ter) SNV
Germline
Chr16:23626272 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA164329 rs_587781457

6 SubmittersRCV000129390RCV000485246RCV000799015

NM_024675.4(PALB2):c.2417C>T (p.Pro806Leu) SNV
Germline
Chr16:23629737 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Pancreatic cancer, susceptibility to, 3
Breast and/or ovarian cancer
Malignant tumor of breast
Criteria Provided
Conflicting Classifications
CA164360 rs_45464991

12 SubmittersRCV000129403RCV000204760RCV000235688RCV001192769RCV001030305RCV003149891RCV001355012

NM_024675.4(PALB2):c.438A>C (p.Arg146Ser) SNV
Germline
Chr16:23636108 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA294070 rs_587781498

8 SubmittersRCV000129467RCV000212775RCV000410126

NM_024675.4(PALB2):c.2743G>A (p.Ala915Thr) SNV
Germline
Chr16:23626241 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Diffuse midline glioma, H3 K27-altered
PALB2-related disorder
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA164485 rs_374736398

11 SubmittersRCV000129474RCV000471567RCV000481045RCV003315231RCV004545873RCV001355149RCV005600709

NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr) SNV
Germline
Chr16:23603512 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA294118 rs_200283306

20 SubmittersRCV000129794RCV000226949RCV000212829RCV001818304RCV004760389RCV005359213

NM_024675.4(PALB2):c.3201+1G>T SNV
Germline
Chr16:23614003 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA165631 rs_587776423

4 SubmittersRCV000130058RCV001206798

NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn) SNV
Germline
Chr16:23630199 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Hereditary breast ovarian cancer syndrome
Endometrial carcinoma
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA165693 rs_587781818

11 SubmittersRCV000130094RCV000226926RCV000302799RCV001030649RCV001358211RCV000842453RCV001030271

NM_024675.4(PALB2):c.1364A>G (p.Asn455Ser) SNV
Germline
Chr16:23635182 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA294158 rs_587781824

7 SubmittersRCV000130104RCV000409652RCV000212792RCV001116859

NM_024675.4(PALB2):c.3044C>T (p.Thr1015Ile) SNV
Germline
Chr16:23621431 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA165765 rs_367840862

7 SubmittersRCV000130130RCV000236113RCV000781686RCV000689784

NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys) SNV
Germline
Chr16:23635504 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Chordoma
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA165871 rs_375699023

12 SubmittersRCV000130172RCV000232741RCV000589687RCV001251061RCV002266924RCV004739441

NM_024675.4(PALB2):c.1756G>A (p.Asp586Asn) SNV
Germline
Chr16:23630398 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Breast and/or ovarian cancer
Criteria Provided
Conflicting Classifications
CA166193 rs_587781954

10 SubmittersRCV000130326RCV000411835RCV000481375RCV000764051RCV001798444

NM_024675.4(PALB2):c.563C>G (p.Ala188Gly) SNV
Germline
Chr16:23635983 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA166273 rs_587781975

7 SubmittersRCV000130368RCV000168329RCV001818311RCV004791275

NM_024675.4(PALB2):c.424A>T (p.Lys142Ter) SNV
Germline
Chr16:23636122 Pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
PALB2-related disorder
Malignant tumor of breast
Breast cancer, susceptibility to
Criteria Provided
Multiple Submitters
No Conflicts
CA166400 rs_587782005

14 SubmittersRCV000130421RCV000412725RCV000476449RCV003387508RCV001357166RCV002251434

NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr) SNV
Germline
Chr16:23614059 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
not specified
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA166426 rs_138273800

18 SubmittersRCV000130431RCV000204730RCV000482622RCV001355887RCV001194140RCV002505109RCV003389456RCV003444205RCV004544294

NM_024675.4(PALB2):c.3476G>A (p.Trp1159Ter) SNV
Germline
Chr16:23603544 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA166575 rs_587782050

3 SubmittersRCV000130518RCV003453075

NM_024675.4(PALB2):c.2521A>G (p.Thr841Ala) SNV
Germline
Chr16:23629269 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA166713 rs_368990417

2 SubmittersRCV000130589RCV000470365

NM_024675.4(PALB2):c.3307G>C (p.Val1103Leu) SNV
Germline
Chr16:23607907 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Breast and/or ovarian cancer
not specified
Ovarian cancer
Criteria Provided
Conflicting Classifications
CA166991 rs_201657283

12 SubmittersRCV000130728RCV000226292RCV000483048RCV000764042RCV003149901RCV001194142RCV003153422

NM_024675.4(PALB2):c.557A>T (p.Asn186Ile) SNV
Germline
Chr16:23635989 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
not specified
Criteria Provided
Conflicting Classifications
CA167050 rs_587782164

12 SubmittersRCV000130756RCV000197454RCV000588642RCV003315411RCV002478396RCV004595933

NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln) SNV
Germline
Chr16:23607957 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
PALB2-related disorder
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA294240 rs_146377793

17 SubmittersRCV000130835RCV000203792RCV000590502RCV000855603RCV002225436RCV004739448RCV005016447

NM_024675.4(PALB2):c.1189A>T (p.Thr397Ser) SNV
Germline
Chr16:23635357 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast and/or ovarian cancer
Familial ovarian cancer
Inherited breast cancer and ovarian cancer
not specified
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA294249 rs_367578415

15 SubmittersRCV000130855RCV000205533RCV000586638RCV003149904RCV003447500RCV004584197RCV002267878RCV005359248

NM_024675.4(PALB2):c.1127G>C (p.Ser376Thr) SNV
Germline
Chr16:23635419 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA167264 rs_587782200

5 SubmittersRCV000130860RCV000465244RCV003159104

NM_024675.4(PALB2):c.2947A>T (p.Thr983Ser) SNV
Germline
Chr16:23623018 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA167318 rs_587782211

5 SubmittersRCV000130889RCV000206313RCV000522868

NM_024675.4(PALB2):c.734C>T (p.Ala245Val) SNV
Germline
Chr16:23635812 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA167345 rs_571063157

12 SubmittersRCV000130900RCV000483902RCV000200032RCV001030168RCV003315412RCV005394483

NM_024675.4(PALB2):c.3492G>T (p.Trp1164Cys) SNV
Germline
Chr16:23603528 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA167348 rs_587782217

7 SubmittersRCV000130901RCV000412141RCV000487310RCV004551258

NM_024675.4(PALB2):c.2619T>G (p.Ser873Arg) SNV
Germline
Chr16:23626365 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial ovarian cancer
Criteria Provided
Conflicting Classifications
CA168079 rs_587782387

13 SubmittersRCV000199659RCV000131395RCV000507756RCV001281710RCV001357530

NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter) SNV
Germline
Chr16:23629897 Pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Fanconi anemia complementation group N
Gastric cancer
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 5
PALB2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA168247 rs_180177110

26 SubmittersRCV000131502RCV000236519RCV000466579RCV000824730RCV001264577RCV001781472RCV003162588RCV003492624RCV004597749RCV004739453

NM_024675.4(PALB2):c.1258C>T (p.Gln420Ter) SNV
Germline
Chr16:23635288 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA168278 rs_587782446

5 SubmittersRCV000131515RCV000529684RCV000657737

NM_024675.4(PALB2):c.18G>T (p.Gly6=) SNV
Germline
Chr16:23641140 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA168342 rs_587782462

15 SubmittersRCV000131549RCV000432017RCV000557471RCV002265620

NM_024675.4(PALB2):c.3320T>C (p.Leu1107Pro) SNV
Germline
Chr16:23607894 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 5
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA168427 rs_149194681

12 SubmittersRCV000131597RCV000204289RCV000235261RCV001818326RCV003315413RCV005394489

NM_024675.4(PALB2):c.10C>T (p.Pro4Ser) SNV
Germline
Chr16:23641148 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA294407 rs_587782483

8 SubmittersRCV000131600RCV000205368RCV004696852

NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg) SNV
Germline
Chr16:23607918 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Hereditary breast ovarian cancer syndrome
Criteria Provided
Conflicting Classifications
CA168538 rs_142132127

23 SubmittersRCV000131652RCV000235868RCV000410212RCV000657014RCV001294230RCV002478400RCV005359278RCV005411346

NM_024675.4(PALB2):c.3350+5G>A SNV
Germline
Chr16:23607859 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Condition: not provided
PALB2-related disorder
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Criteria Provided
Multiple Submitters
No Conflicts
CA168760 rs_587782566

14 SubmittersRCV000131789RCV000526519RCV001824643RCV005359282RCV004998280RCV004739459RCV004796031

NM_024675.4(PALB2):c.2557G>A (p.Gly853Ser) SNV
Germline
Chr16:23629233 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA168790 rs_587782579

10 SubmittersRCV000131807RCV000230627RCV000483722RCV001800443RCV002478401

NM_024675.4(PALB2):c.740C>G (p.Thr247Arg) SNV
Germline
Chr16:23635806 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA169202 rs_587782658

9 SubmittersRCV000132073RCV000211087RCV000588870

NM_024675.4(PALB2):c.2608G>A (p.Val870Ile) SNV
Germline
Chr16:23626376 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA294480 rs_376641234

12 SubmittersRCV000132122RCV000212815RCV000227189RCV000656937

NM_024675.4(PALB2):c.2401G>A (p.Asp801Asn) SNV
Germline
Chr16:23629753 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
See cases
Criteria Provided
Conflicting Classifications
CA169572 rs_587782765

8 SubmittersRCV000167989RCV000132292RCV001570317RCV002251997

NM_024675.4(PALB2):c.292A>G (p.Ile98Val) SNV
Germline
Chr16:23636254 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
Criteria Provided
Conflicting Classifications
CA169811 rs_587782831

8 SubmittersRCV000132416RCV000471839RCV001753518RCV002225448

NM_024675.4(PALB2):c.2852C>T (p.Ser951Phe) SNV
Germline
Chr16:23623113 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA170010 rs_587782889

5 SubmittersRCV000132527RCV000590893RCV000535908

NM_024675.4(PALB2):c.995T>A (p.Leu332His) SNV
Germline
Chr16:23635551 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
Criteria Provided
Conflicting Classifications
CA170038 rs_377149139

13 SubmittersRCV000132538RCV000199494RCV000589127RCV001354291

NM_024675.4(PALB2):c.1108C>T (p.Gln370Ter) SNV
Germline
Chr16:23635438 Pathogenic Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA294547 rs_587776411

8 SubmittersRCV000133472RCV001030200RCV001525190

NM_024675.4(PALB2):c.1571C>G (p.Ser524Ter) SNV
Germline
Chr16:23634975 Pathogenic Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA294552 rs_587776413

8 SubmittersRCV000133475RCV000701075RCV000454158

NM_024675.4(PALB2):c.2074C>T (p.Gln692Ter) SNV
Germline
Chr16:23630080 Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Reviewed By Expert Panel
CA294556 rs_587776415

9 SubmittersRCV000133477RCV000562385RCV001030275RCV003155925

NM_024675.4(PALB2):c.2834+1G>T SNV
Germline
Chr16:23624008 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Criteria Provided
Multiple Submitters
No Conflicts
CA294560 rs_587776419

9 SubmittersRCV000133481RCV000567638RCV000411304RCV000763377

NM_024675.4(PALB2):c.3201+1G>C SNV
Germline
Chr16:23614003 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA191641 rs_587776423

10 SubmittersRCV000164723RCV000230297RCV000133485

NM_024675.4(PALB2):c.451C>T (p.Gln151Ter) SNV
Germline
Chr16:23636095 Pathogenic Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA294565 rs_587776407

9 SubmittersRCV000133491RCV000456418RCV000576041RCV004586565

NM_024675.4(PALB2):c.48G>A (p.Lys16=) SNV
Germline
Chr16:23641110 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Criteria Provided
Multiple Submitters
No Conflicts
CA294568 rs_587776405

8 SubmittersRCV000133492RCV000566830RCV001030105RCV004796039

NM_024675.4(PALB2):c.3404G>A (p.Gly1135Glu) SNV
Germline
Chr16:23603616 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Carcinoma of colon
not specified
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA299753 rs_730881894

12 SubmittersRCV000232726RCV000589198RCV000570480RCV001030415RCV000855602RCV002492638

NM_024675.4(PALB2):c.3278T>C (p.Ile1093Thr) SNV
Germline
Chr16:23607936 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA299750 rs_45616636

9 SubmittersRCV000160854RCV000197231RCV000223658RCV001357444RCV003483530

NM_024675.4(PALB2):c.3235G>T (p.Ala1079Ser) SNV
Germline
Chr16:23607979 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA299697 rs_730881878

12 SubmittersRCV000160829RCV000543305RCV000564254RCV001797644RCV005359383

NM_024675.4(PALB2):c.3202-8G>T SNV
Germline
Chr16:23608020 Conflicting classifications of pathogenicity not specified
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Criteria Provided
Conflicting Classifications
CA299680 rs_367979106

7 SubmittersRCV000160822RCV000476584RCV000580700RCV001284321RCV005359382RCV001798556

NM_024675.4(PALB2):c.3202-8G>A SNV
Germline
Chr16:23608020 Conflicting classifications of pathogenicity not specified
Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA299679 rs_367979106

7 SubmittersRCV000160821RCV000488296RCV001081288RCV000579984

NM_024675.4(PALB2):c.2922G>T (p.Lys974Asn) SNV
Germline
Chr16:23623043 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Malignant tumor of breast
Criteria Provided
Conflicting Classifications
CA299744 rs_730881892

11 SubmittersRCV000160849RCV000566246RCV000205333RCV002267894RCV001355089

NM_024675.4(PALB2):c.2834+1G>A SNV
Germline
Chr16:23624008 Pathogenic/Likely pathogenic Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA299740 rs_587776419

9 SubmittersRCV000160847RCV000635960RCV001016726RCV001268941RCV002478488

NM_024675.4(PALB2):c.2699C>T (p.Ala900Val) SNV
Germline
Chr16:23626285 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA299734 rs_730881890

7 SubmittersRCV000160844RCV000216145RCV000555792RCV002485001RCV005394561

NM_024675.4(PALB2):c.2353C>T (p.Pro785Ser) SNV
Germline
Chr16:23629801 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary cancer
Criteria Provided
Conflicting Classifications
CA299731 rs_730881889

7 SubmittersRCV000160842RCV000460019RCV001015124RCV004700497

NM_024675.4(PALB2):c.2329G>A (p.Asp777Asn) SNV
Germline
Chr16:23629825 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA299728 rs_148026749

8 SubmittersRCV000160841RCV000204167RCV000212809

NM_024675.4(PALB2):c.2229T>A (p.Tyr743Ter) SNV
Germline
Chr16:23629925 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA299725 rs_730881888

6 SubmittersRCV000160839RCV002426793RCV004992040RCV002466252

NM_024675.4(PALB2):c.2128A>G (p.Thr710Ala) SNV
Germline
Chr16:23630026 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA299722 rs_730881887

12 SubmittersRCV000160838RCV000232377RCV000569204RCV000780572RCV002485000RCV004535048

NM_024675.4(PALB2):c.2106A>G (p.Ile702Met) SNV
Germline
Chr16:23630048 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA299719 rs_730881886

10 SubmittersRCV000160837RCV000211076RCV000212805

NM_024675.4(PALB2):c.2020G>A (p.Asp674Asn) SNV
Germline
Chr16:23630134 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA299716 rs_730881885

6 SubmittersRCV000160836RCV000217309RCV000548729RCV002505195

NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter) SNV
Germline
Chr16:23630430 Pathogenic/Likely pathogenic Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
PALB2-related disorder
Fanconi anemia complementation group N
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA299691 rs_730881876

11 SubmittersRCV000160827RCV001238865RCV003155926RCV004724950RCV001781504RCV000771400

NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu) SNV
Germline
Chr16:23634936 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Fanconi anemia complementation group N
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA299796 rs_142103232

14 SubmittersRCV000160871RCV000168207RCV000220923RCV001030240RCV001121722RCV004535051

NM_024675.4(PALB2):c.1492G>T (p.Asp498Tyr) SNV
Germline
Chr16:23635054 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Fanconi anemia complementation group N
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of breast
Criteria Provided
Conflicting Classifications
CA185966 rs_75023630

14 SubmittersRCV000160870RCV000197379RCV000200991RCV000368837RCV001030650RCV000858743RCV001356483

NM_024675.4(PALB2):c.1471G>C (p.Ala491Pro) SNV
Germline
Chr16:23635075 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA299793 rs_577969558

7 SubmittersRCV000160869RCV000216241RCV000635626RCV002485002RCV004535050

NM_024675.4(PALB2):c.1407C>G (p.Cys469Trp) SNV
Germline
Chr16:23635139 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA299710 rs_730881883

5 SubmittersRCV000160834RCV000810010RCV000571438

NM_024675.4(PALB2):c.1400G>A (p.Gly467Asp) SNV
Germline
Chr16:23635146 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA299790 rs_730881906

5 SubmittersRCV000160868RCV000212793RCV000549785

NM_024675.4(PALB2):c.1156A>G (p.Thr386Ala) SNV
Germline
Chr16:23635390 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA299787 rs_148102335

6 SubmittersRCV000160867RCV000773131RCV002492639RCV000528086

NM_024675.4(PALB2):c.688G>T (p.Glu230Ter) SNV
Germline
Chr16:23635858 Pathogenic Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA299784 rs_730881905

8 SubmittersRCV000160866RCV000471920RCV000561729

NM_024675.4(PALB2):c.587G>A (p.Arg196Lys) SNV
Germline
Chr16:23635959 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA299781 rs_730881904

7 SubmittersRCV000160865RCV000216462RCV000228567RCV004535049

NM_024675.4(PALB2):c.397A>G (p.Ser133Gly) SNV
Germline
Chr16:23636149 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA299704 rs_730881881

6 SubmittersRCV000227552RCV000587887RCV000454193

NM_024675.4(PALB2):c.212-2A>G SNV
Germline
Chr16:23636336 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N
Fanconi anemia complementation group N
PALB2-related disorder
Hereditary breast ovarian cancer syndrome
Criteria Provided
Conflicting Classifications
CA299700 rs_730881879

13 SubmittersRCV000160830RCV000206312RCV000213220RCV002498799RCV001781505RCV004739509RCV004800300

NM_024675.4(PALB2):c.161A>G (p.Glu54Gly) SNV
Germline
Chr16:23637900 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Criteria Provided
Conflicting Classifications
CA299763 rs_730881898

5 SubmittersRCV000160859RCV000212769RCV000463943RCV000780564

NM_024675.4(PALB2):c.109-2A>G SNV
Germline
Chr16:23637954 Pathogenic/Likely pathogenic Condition: not provided
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA299762 rs_730881897

9 SubmittersRCV000160858RCV005016482RCV000572657RCV000803061

NM_024675.4(PALB2):c.43G>T (p.Glu15Ter) SNV
Germline
Chr16:23641115 Pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA299713 rs_730881884

6 SubmittersRCV000160835RCV000567534RCV001036521

NM_024675.4(PALB2):c.-5G>T SNV
Germline
Chr16:23641162 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA299687 rs_730881875

3 SubmittersRCV000160825RCV000561746

NM_024675.4(PALB2):c.3545T>C (p.Val1182Ala) SNV
Germline
Chr16:23603475 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA196999 rs_747149179

4 SubmittersRCV000166908RCV000548591

NM_024675.4(PALB2):c.3244A>G (p.Ser1082Gly) SNV
Germline
Chr16:23607970 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Condition: not provided
Criteria Provided
Conflicting Classifications
CA196312 rs_786203345

8 SubmittersRCV000166614RCV000232382RCV002505212RCV004998351

NM_024675.4(PALB2):c.3114-5C>T SNV
Germline
Chr16:23614096 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA198420 rs_753307725

6 SubmittersRCV000167480RCV000934763RCV001775654

NM_024675.4(PALB2):c.2986G>T (p.Glu996Ter) SNV
Germline
Chr16:23622979 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA197777 rs_786203775

6 SubmittersRCV000167226RCV000227242RCV000485825RCV002271440

NM_024675.4(PALB2):c.2792T>G (p.Leu931Arg) SNV
Germline
Chr16:23624051 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 5
Malignant tumor of breast
Criteria Provided
Conflicting Classifications
CA196017 rs_773831304

16 SubmittersRCV000166492RCV000408812RCV000483646RCV002298494RCV003389046RCV001354782

NM_024675.4(PALB2):c.2782G>A (p.Val928Met) SNV
Germline
Chr16:23624061 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA192592 rs_771288520

3 SubmittersRCV000165137RCV002516474

NM_024675.4(PALB2):c.2748+1G>T SNV
Germline
Chr16:23626235 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA193676 rs_753153576

12 SubmittersRCV000165555RCV000635768RCV000487378RCV003155927

NM_024675.4(PALB2):c.2662A>T (p.Ile888Leu) SNV
Germline
Chr16:23626322 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA192991 rs_786202468

4 SubmittersRCV000165291RCV000456550RCV002284368

NM_024675.4(PALB2):c.2474G>C (p.Arg825Thr) SNV
Germline
Chr16:23629680 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 5
Endometrial carcinoma
Criteria Provided
Conflicting Classifications
CA192462 rs_146218439

13 SubmittersRCV000165079RCV000236812RCV000780569RCV001086620RCV005359498RCV001256975

NM_024675.4(PALB2):c.2453T>C (p.Phe818Ser) SNV
Germline
Chr16:23629701 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary cancer
Criteria Provided
Conflicting Classifications
CA186194 rs_370908330

7 SubmittersRCV000162394RCV000476189RCV004589674RCV005235052

NM_024675.4(PALB2):c.2356C>T (p.His786Tyr) SNV
Germline
Chr16:23629798 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
not specified
Condition: not provided
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA197222 rs_786203608

10 SubmittersRCV000166996RCV000226421RCV002505215RCV003321534RCV001566992RCV003129793

NM_024675.4(PALB2):c.2344C>T (p.Pro782Ser) SNV
Germline
Chr16:23629810 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
not specified
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA196135 rs_786203296

11 SubmittersRCV000166543RCV000470017RCV000478256RCV001355915RCV003479039RCV002492670

NM_024675.4(PALB2):c.2336C>G (p.Ser779Ter) SNV
Germline
Chr16:23629818 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
PALB2-related disorder
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA194883 rs_764509489

11 SubmittersRCV000457524RCV000166057RCV003226227RCV004528915RCV000480723

NM_024675.4(PALB2):c.2277A>G (p.Gln759=) SNV
Germline
Chr16:23629877 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Fanconi anemia complementation group N
Breast and/or ovarian cancer
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA193209 rs_786202524

11 SubmittersRCV000165372RCV000472744RCV000614133RCV001119745RCV003150021RCV004535111

NM_024675.4(PALB2):c.2228A>T (p.Tyr743Phe) SNV
Germline
Chr16:23629926 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA191248 rs_141749524

2 SubmittersRCV000164551RCV000698708

NM_024675.4(PALB2):c.2228A>G (p.Tyr743Cys) SNV
Germline
Chr16:23629926 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Familial pancreatic carcinoma
Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA189784 rs_141749524

13 SubmittersRCV000164010RCV000781684RCV001030648RCV003150010RCV005359455RCV000197626RCV000255110RCV000296163

NM_024675.4(PALB2):c.2134G>C (p.Ala712Pro) SNV
Germline
Chr16:23630020 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA194955 rs_765942523

5 SubmittersRCV000166087RCV000459199RCV002485027

NM_024675.4(PALB2):c.2100A>T (p.Ser700=) SNV
Germline
Chr16:23630054 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Familial cancer of breast
not specified
Condition: not provided
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA190176 rs_757145884

10 SubmittersRCV000164155RCV000347505RCV000200038RCV000611803RCV001358505RCV004539543

NM_024675.4(PALB2):c.2067G>A (p.Ser689=) SNV
Germline
Chr16:23630087 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Fanconi anemia complementation group N
Condition: not provided
Carcinoma of colon
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA193263 rs_371149159

16 SubmittersRCV000165391RCV000197495RCV000420216RCV001119747RCV001284030RCV001356268RCV004535112

NM_024675.4(PALB2):c.1958G>A (p.Cys653Tyr) SNV
Germline
Chr16:23630196 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA198426 rs_771246748

3 SubmittersRCV000167483RCV000456974

NM_024675.4(PALB2):c.1930G>T (p.Gly644Ter) SNV
Germline
Chr16:23630224 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
CA192870 rs_786202439

1 SubmittersRCV000165251

NM_024675.4(PALB2):c.1766C>T (p.Thr589Met) SNV
Germline
Chr16:23630388 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Carcinoma of colon
Malignant tumor of breast
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA198251 rs_773340677

11 SubmittersRCV000167418RCV000474329RCV000479496RCV001175052RCV001030258RCV001357624RCV004739545

NM_024675.4(PALB2):c.1748T>C (p.Leu583Ser) SNV
Germline
Chr16:23630406 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA195224 rs_587782151

7 SubmittersRCV000166198RCV000464125RCV000996241RCV005230014RCV005016500

NM_024675.4(PALB2):c.1691A>G (p.Lys564Arg) SNV
Germline
Chr16:23630463 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA194670 rs_62625276

7 SubmittersRCV000165968RCV000197146RCV001030253

NM_024675.4(PALB2):c.1662A>G (p.Glu554=) SNV
Germline
Chr16:23634884 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast and/or ovarian cancer
Criteria Provided
Conflicting Classifications
CA193865 rs_786202692

9 SubmittersRCV000165629RCV000462332RCV001567936RCV003491900

NM_024675.4(PALB2):c.1659C>G (p.His553Gln) SNV
Germline
Chr16:23634887 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Criteria Provided
Conflicting Classifications
CA196924 rs_370318597

4 SubmittersRCV000166875RCV000547924RCV001201201

NM_024675.4(PALB2):c.1599T>C (p.Thr533=) SNV
Germline
Chr16:23634947 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
not specified
PALB2-related disorder
Condition: not provided
Familial pancreatic carcinoma
Criteria Provided
Conflicting Classifications
CA186523 rs_786201088

10 SubmittersRCV000162589RCV000232866RCV001121723RCV001818362RCV004544477RCV001704155RCV005359395

NM_024675.4(PALB2):c.1526G>A (p.Gly509Asp) SNV
Germline
Chr16:23635020 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Familial cancer of breast
not specified
Criteria Provided
Conflicting Classifications
CA195692 rs_786203176

5 SubmittersRCV000166375RCV000458684RCV000765273RCV002228767

NM_024675.4(PALB2):c.1510G>A (p.Val504Ile) SNV
Germline
Chr16:23635036 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA196712 rs_771846754

3 SubmittersRCV000166778RCV000816945

NM_024675.4(PALB2):c.1454C>T (p.Thr485Ile) SNV
Germline
Chr16:23635092 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Carcinoma of colon
Criteria Provided
Conflicting Classifications
CA193882 rs_786202699

5 SubmittersRCV000165637RCV000205126RCV000507136RCV001030228

NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter) SNV
Germline
Chr16:23635095 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Generalized hypopigmentation
Basal cell carcinoma
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Malignant tumor of breast
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA197580 rs_786203714

12 SubmittersRCV000167136RCV000414940RCV000587378RCV001310142RCV001356904RCV001543564

NM_024675.4(PALB2):c.1421G>A (p.Ser474Asn) SNV
Germline
Chr16:23635125 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA190537 rs_786201806

6 SubmittersRCV000164284RCV000235242RCV000693357

NM_024675.4(PALB2):c.1408A>G (p.Thr470Ala) SNV
Germline
Chr16:23635138 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Inherited breast cancer and ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA191289 rs_150636811

10 SubmittersRCV000164567RCV000525404RCV000480806RCV002265643RCV005237616RCV005359480

NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg) SNV
Germline
Chr16:23635167 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
PALB2-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA196834 rs_749494645

16 SubmittersRCV000166836RCV000289282RCV000483813RCV001030716RCV000989572RCV005396492RCV004739541RCV000780567

NM_024675.4(PALB2):c.1273G>A (p.Val425Met) SNV
Germline
Chr16:23635273 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Malignant tumor of breast
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
PALB2-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA197697 rs_576081828

13 SubmittersRCV000167189RCV000205365RCV001358598RCV000236471RCV003491915RCV004689644RCV004539565RCV001030212

NM_024675.4(PALB2):c.1252A>G (p.Asn418Asp) SNV
Germline
Chr16:23635294 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA194782 rs_786202943

7 SubmittersRCV000166018RCV000228629RCV001775647RCV005016498

NM_024675.4(PALB2):c.1123C>A (p.Leu375Ile) SNV
Germline
Chr16:23635423 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA196837 rs_373298267

13 SubmittersRCV000166837RCV000198293RCV000236203RCV001420780RCV004545875

NM_024675.4(PALB2):c.1097A>G (p.Asn366Ser) SNV
Germline
Chr16:23635449 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA191737 rs_554849907

6 SubmittersRCV000164773RCV000204324RCV005054172RCV004535105

NM_024675.4(PALB2):c.1093A>G (p.Arg365Gly) SNV
Germline
Chr16:23635453 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA191954 rs_773001248

8 SubmittersRCV000164864RCV000486708RCV000205169RCV002485020

NM_024675.4(PALB2):c.1030A>G (p.Asn344Asp) SNV
Germline
Chr16:23635516 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA194420 rs_786202850

4 SubmittersRCV000165880RCV000230594RCV004692776

NM_024675.4(PALB2):c.980G>A (p.Cys327Tyr) SNV
Germline
Chr16:23635566 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA193324 rs_786202550

5 SubmittersRCV000165411RCV000460541RCV001836740

NM_024675.4(PALB2):c.950C>T (p.Thr317Ile) SNV
Germline
Chr16:23635596 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Malignant tumor of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA191811 rs_45548638

8 SubmittersRCV000164806RCV000200449RCV001357471RCV000766544

NM_024675.4(PALB2):c.940C>T (p.Gln314Ter) SNV
Germline
Chr16:23635606 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA197949 rs_786203821

9 SubmittersRCV000167296RCV000463323RCV000523563RCV000586368

NM_024675.4(PALB2):c.829G>A (p.Asp277Asn) SNV
Germline
Chr16:23635717 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Carcinoma of colon
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA195935 rs_778309339

9 SubmittersRCV000166462RCV000235601RCV000477600RCV001030179RCV001336120

NM_024675.4(PALB2):c.813T>A (p.Ser271Arg) SNV
Germline
Chr16:23635733 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA195966 rs_786203246

9 SubmittersRCV000166472RCV000556676RCV001555224RCV001193465

NM_024675.4(PALB2):c.788A>G (p.Glu263Gly) SNV
Germline
Chr16:23635758 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA192260 rs_745553724

8 SubmittersRCV000164996RCV000485489RCV000233981RCV005016493

NM_024675.4(PALB2):c.739A>G (p.Thr247Ala) SNV
Germline
Chr16:23635807 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA195172 rs_786203040

6 SubmittersRCV000166174RCV000459460RCV002485029

NM_024675.4(PALB2):c.637G>C (p.Val213Leu) SNV
Germline
Chr16:23635909 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA198128 rs_786203875

5 SubmittersRCV000167372RCV000635925RCV001193467RCV002485041

NM_024675.4(PALB2):c.495C>T (p.Gly165=) SNV
Germline
Chr16:23636051 Conflicting classifications of pathogenicity not specified
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Bile duct cancer
Criteria Provided
Conflicting Classifications
CA193911 rs_200937538

15 SubmittersRCV000444952RCV000532734RCV000679773RCV000165654RCV001119841RCV001357741

NM_024675.4(PALB2):c.266A>G (p.Asp89Gly) SNV
Germline
Chr16:23636280 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA190463 rs_786201790

2 SubmittersRCV000164258RCV002517613

NM_024675.4(PALB2):c.101G>T (p.Arg34Leu) SNV
Germline
Chr16:23638077 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA196241 rs_144944814

9 SubmittersRCV000166587RCV000456690RCV000520497RCV002498826

NM_024675.4(PALB2):c.100C>T (p.Arg34Cys) SNV
Germline
Chr16:23638078 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Inherited breast cancer and ovarian cancer
Criteria Provided
Conflicting Classifications
CA191499 rs_373483056

14 SubmittersRCV000164663RCV000199940RCV000236984RCV002222417RCV004808602

NM_024675.4(PALB2):c.36G>A (p.Glu12=) SNV
Germline
Chr16:23641122 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA192309 rs_760609798

6 SubmittersRCV000165018RCV000476001RCV004998329

NM_024675.4(PALB2):c.3106G>C (p.Val1036Leu) SNV
Germline
Chr16:23621369 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Carcinoma of colon
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA334122 rs_756906403

12 SubmittersRCV000168000RCV000479177RCV000216674RCV001731498RCV001030381RCV002485044

NM_024675.4(PALB2):c.2835-1G>A SNV
Germline
Chr16:23623131 Pathogenic/Likely pathogenic Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
PALB2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA334206 rs_515726099

5 SubmittersRCV000168057RCV000255033RCV000454148RCV004528920

NM_024675.4(PALB2):c.1659C>A (p.His553Gln) SNV
Germline
Chr16:23634887 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA334554 rs_370318597

6 SubmittersRCV000519942RCV000582233RCV000168288

NM_024675.4(PALB2):c.1316G>T (p.Gly439Val) SNV
Germline
Chr16:23635230 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
not specified
Criteria Provided
Conflicting Classifications
CA334035 rs_537258442

13 SubmittersRCV000167944RCV000588409RCV000565232RCV000765276RCV001818401

NM_024675.4(PALB2):c.1115G>C (p.Ser372Thr) SNV
Germline
Chr16:23635431 Conflicting classifications of pathogenicity Familial cancer of breast
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA334752 rs_786204243

4 SubmittersRCV000168425RCV000765277RCV000774638

NM_024675.4(PALB2):c.1096A>G (p.Asn366Asp) SNV
Germline
Chr16:23635450 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Inherited breast cancer and ovarian cancer
Criteria Provided
Conflicting Classifications
CA334083 rs_786204080

6 SubmittersRCV000167975RCV000774639RCV004808606

NM_024675.4(PALB2):c.85A>G (p.Ser29Gly) SNV
Germline
Chr16:23638093 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA333979 rs_776110440

5 SubmittersRCV000167900RCV000217631RCV002262763

NM_024675.4(PALB2):c.2505C>T (p.Ser835=) SNV
Germline
Chr16:23629649 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
not specified
Criteria Provided
Conflicting Classifications
CA246241 rs_756502783

12 SubmittersRCV000575425RCV001085109RCV000724499RCV001354928RCV003321538

NM_024675.4(PALB2):c.3538A>G (p.Ile1180Val) SNV
Germline
Chr16:23603482 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA335883 rs_863224788

10 SubmittersRCV000195715RCV000216876RCV000478251RCV001251265RCV002492923RCV005396619

NM_024675.4(PALB2):c.3473A>G (p.His1158Arg) SNV
Germline
Chr16:23603547 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
PALB2-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA338566 rs_45505500

9 SubmittersRCV000199321RCV000217762RCV001798672RCV004739589RCV004998415

NM_024675.4(PALB2):c.3448C>T (p.Leu1150Phe) SNV
Germline
Chr16:23603572 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA337664 rs_863224787

6 SubmittersRCV000198123RCV000776376RCV001284322

NM_024675.4(PALB2):c.3260G>A (p.Ser1087Asn) SNV
Germline
Chr16:23607954 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA336127 rs_863224786

2 SubmittersRCV000196033RCV001019497

NM_024675.4(PALB2):c.3202-9C>T SNV
Germline
Chr16:23608021 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Pancreatic cancer, susceptibility to, 3
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA336806 rs_757444247

7 SubmittersRCV000196913RCV000579396RCV001354308RCV001711353RCV001818478

NM_024675.4(PALB2):c.3103A>G (p.Ile1035Val) SNV
Germline
Chr16:23621372 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Chordoma
Criteria Provided
Conflicting Classifications
CA336715 rs_863224783

10 SubmittersRCV000196785RCV000220160RCV001797063RCV002266931

NM_024675.4(PALB2):c.2515-1G>C SNV
Germline
Chr16:23629276 Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA337588 rs_587776417

5 SubmittersRCV000198016RCV000580827RCV000985889

NM_024675.4(PALB2):c.2506G>T (p.Val836Phe) SNV
Germline
Chr16:23629648 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA335985 rs_536644825

5 SubmittersRCV000195841RCV000584448RCV001030312

NM_024675.4(PALB2):c.2360C>T (p.Thr787Ile) SNV
Germline
Chr16:23629794 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Carcinoma of colon
not specified
Criteria Provided
Conflicting Classifications
CA337312 rs_201042302

14 SubmittersRCV000197564RCV000216753RCV000236931RCV001030299RCV004586620

NM_024675.4(PALB2):c.2176C>T (p.Pro726Ser) SNV
Germline
Chr16:23629978 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA337127 rs_566813395

6 SubmittersRCV000197340RCV000569353RCV001775663RCV005361158

NM_024675.4(PALB2):c.2140G>A (p.Asp714Asn) SNV
Germline
Chr16:23630014 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial pancreatic carcinoma
Criteria Provided
Conflicting Classifications
CA335668 rs_45537237

7 SubmittersRCV000195423RCV000562225RCV003223619RCV005361157

NM_024675.4(PALB2):c.1337A>T (p.Asp446Val) SNV
Germline
Chr16:23635209 Conflicting classifications of pathogenicity Familial cancer of breast
Retinoblastoma
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA339587 rs_146434474

12 SubmittersRCV000200861RCV000761148RCV000255070RCV000562823RCV001194137RCV002492922RCV004530198RCV005600809

NM_024675.4(PALB2):c.985C>G (p.Leu329Val) SNV
Germline
Chr16:23635561 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA336763 rs_863224792

3 SubmittersRCV000196873RCV001030192RCV005452958

NM_024675.4(PALB2):c.929G>A (p.Ser310Asn) SNV
Germline
Chr16:23635617 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA336641 rs_370887726

9 SubmittersRCV000196709RCV000480147RCV000570793RCV004689672RCV004739590

NM_024675.4(PALB2):c.380A>G (p.His127Arg) SNV
Germline
Chr16:23636166 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA338916 rs_863224789

6 SubmittersRCV000199860RCV001804936RCV001030147

NM_024675.4(PALB2):c.3073G>A (p.Ala1025Thr) SNV
Germline
Chr16:23621402 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group N
not specified
Breast and/or ovarian cancer
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA277851 rs_746872839

12 SubmittersRCV000202108RCV000213208RCV000479987RCV001116750RCV001174762RCV003491950RCV005396622

NM_024675.4(PALB2):c.3350+1G>A SNV
Germline
Chr16:23607863 Pathogenic/Likely pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA348374 rs_864622192

3 SubmittersRCV000204129

NM_024675.4(PALB2):c.3331C>G (p.Pro1111Ala) SNV
Germline
Chr16:23607883 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Criteria Provided
Conflicting Classifications
CA350039 rs_864622193

10 SubmittersRCV000222857RCV000205952RCV001800527RCV000587389RCV002478727RCV004764779

NM_024675.4(PALB2):c.3271C>T (p.Gln1091Ter) SNV
Germline
Chr16:23607943 Pathogenic/Likely pathogenic Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Multiple Submitters
No Conflicts
CA350661 rs_864622138

5 SubmittersRCV000206656RCV000708617RCV004692825

NM_024675.4(PALB2):c.2834+2T>G SNV
Germline
Chr16:23624007 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA349966 rs_864622481

1 SubmittersRCV000205865

NM_024675.4(PALB2):c.2561A>G (p.Asn854Ser) SNV
Germline
Chr16:23629229 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA348183 rs_146455175

8 SubmittersRCV000203889RCV000573572RCV000679765

NM_024675.4(PALB2):c.1647C>A (p.His549Gln) SNV
Germline
Chr16:23634899 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA348236 rs_747842085

11 SubmittersRCV000203956RCV000219639RCV000479905RCV000766620RCV001798683RCV005396646

NM_024675.4(PALB2):c.1457A>T (p.Lys486Ile) SNV
Germline
Chr16:23635089 Conflicting classifications of pathogenicity Familial cancer of breast
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA349277 rs_864622291

4 SubmittersRCV000205091RCV000780561RCV001030229RCV002390544

NM_024675.4(PALB2):c.761C>A (p.Ser254Ter) SNV
Germline
Chr16:23635785 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA350807 rs_864622695

2 SubmittersRCV000206812RCV002390551

NM_024675.4(PALB2):c.508A>G (p.Arg170Gly) SNV
Germline
Chr16:23636038 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA349481 rs_864622622

8 SubmittersRCV000205323RCV000215139RCV000484020RCV003114369

NM_024675.4(PALB2):c.398G>T (p.Ser133Ile) SNV
Germline
Chr16:23636148 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA348953 rs_864622411

5 SubmittersRCV000204748RCV000575642RCV005016566RCV005361185

NM_024675.4(PALB2):c.226A>G (p.Ile76Val) SNV
Germline
Chr16:23636320 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Carcinoma of colon
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
not specified
Criteria Provided
Conflicting Classifications
CA348162 rs_541028076

8 SubmittersRCV000203860RCV000223229RCV000590079RCV001030134RCV005016565RCV001526861

NM_024675.4(PALB2):c.149A>C (p.Lys50Thr) SNV
Germline
Chr16:23637912 Conflicting classifications of pathogenicity Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Malignant tumor of breast
Criteria Provided
Conflicting Classifications
CA349816 rs_763598472

13 SubmittersRCV000205692RCV000236334RCV000221595RCV000656934RCV003491955RCV001357513

NM_024675.4(PALB2):c.109C>T (p.Arg37Cys) SNV
Germline
Chr16:23637952 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
PALB2-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA348301 rs_200048921

10 SubmittersRCV000204029RCV000561601RCV000485666RCV004530229RCV002247634

NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter) SNV
Germline
Chr16:23635504 Pathogenic Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA10575850 rs_375699023

10 SubmittersRCV000255651RCV000409735RCV000416712RCV000568484RCV001358472

NM_024675.4(PALB2):c.2755G>A (p.Val919Ile) SNV
Germline
Chr16:23624088 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Breast and/or ovarian cancer
Chordoma
not specified
Criteria Provided
Conflicting Classifications
CA7963488 rs_775193384

10 SubmittersRCV000211057RCV000454132RCV000478723RCV005016571RCV003150103RCV002266935RCV002465567

NM_024675.4(PALB2):c.1478C>T (p.Pro493Leu) SNV
Germline
Chr16:23635068 Conflicting classifications of pathogenicity Familial cancer of breast
Pilocytic astrocytoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7963704 rs_770965402

7 SubmittersRCV000211081RCV000761143RCV000217376RCV001582721

NM_024675.4(PALB2):c.1194G>T (p.Val398=) SNV
Germline
Chr16:23635352 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10576114 rs_61755173

5 SubmittersRCV000211072RCV002336588RCV004998437

NM_024675.4(PALB2):c.3544G>C (p.Val1182Leu) SNV
Germline
Chr16:23603476 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA10579910 rs_876660474

2 SubmittersRCV000215738RCV000802184

NM_024675.4(PALB2):c.3494C>T (p.Ser1165Leu) SNV
Germline
Chr16:23603526 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Chordoma
Criteria Provided
Conflicting Classifications
CA7963328 rs_773829275

12 SubmittersRCV000220953RCV002478804RCV000485944RCV000535759RCV001121621RCV002266936

NM_024675.4(PALB2):c.3412G>A (p.Ala1138Thr) SNV
Germline
Chr16:23603608 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA7963343 rs_577651839

8 SubmittersRCV000215508RCV000686283RCV000759188RCV005016592

NM_024675.4(PALB2):c.3392T>C (p.Ile1131Thr) SNV
Germline
Chr16:23603628 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA10579918 rs_876658196

10 SubmittersRCV000215576RCV000229527RCV000590765RCV005396705

NM_024675.4(PALB2):c.3358G>T (p.Glu1120Ter) SNV
Germline
Chr16:23603662 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA10579919 rs_876658773

4 SubmittersRCV000215626RCV003454620

NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys) SNV
Germline
Chr16:23607864 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Breast-ovarian cancer, familial, susceptibility to, 5
Hereditary breast ovarian cancer syndrome
Condition: not provided
Reviewed By Expert Panel
CA10579920 rs_876659859

9 SubmittersRCV000217139RCV000533846RCV002271470RCV003315422RCV002277578RCV004998471

NM_024675.4(PALB2):c.3232T>A (p.Cys1078Ser) SNV
Germline
Chr16:23607982 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Carcinoma of colon
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA10579924 rs_876659587

8 SubmittersRCV000214649RCV000530258RCV001030400RCV001788088RCV003230458

NM_024675.4(PALB2):c.3225T>A (p.Ser1075Arg) SNV
Germline
Chr16:23607989 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA7963396 rs_202222149

7 SubmittersRCV000218610RCV000466966RCV002500726RCV005396711

NM_024675.4(PALB2):c.3201+3A>C SNV
Germline
Chr16:23614001 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA10579928 rs_876660215

2 SubmittersRCV000216437RCV001853618

NM_024675.4(PALB2):c.3165C>A (p.Tyr1055Ter) SNV
Germline
Chr16:23614040 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA10579929 rs_876658157

4 SubmittersRCV000222632RCV001857756RCV004998440

NM_024675.4(PALB2):c.3114G>A (p.Trp1038Ter) SNV
Germline
Chr16:23614091 Pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA10579930 rs_778345761

4 SubmittersRCV000222262RCV001030388RCV001070907

NM_024675.4(PALB2):c.3113+5G>C SNV
Germline
Chr16:23621357 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Multiple Submitters
No Conflicts
CA10579931 rs_876659463

13 SubmittersRCV000214215RCV000231026RCV000255512RCV005016593RCV005416112

NM_024675.4(PALB2):c.3096G>C (p.Met1032Ile) SNV
Germline
Chr16:23621379 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA7963436 rs_778705498

3 SubmittersRCV000217483RCV001216363

NM_024675.4(PALB2):c.3061G>A (p.Gly1021Arg) SNV
Germline
Chr16:23621414 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Breast and/or ovarian cancer
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7963440 rs_143808171

8 SubmittersRCV000214675RCV000558947RCV002265691RCV001798715RCV003328567

NM_024675.4(PALB2):c.2978C>T (p.Thr993Met) SNV
Germline
Chr16:23622987 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA7963457 rs_61756146

12 SubmittersRCV000213330RCV000236936RCV000544190RCV002267960RCV002478799RCV005396720

NM_024675.4(PALB2):c.2968G>T (p.Glu990Ter) SNV
Germline
Chr16:23622997 Pathogenic Hereditary cancer-predisposing syndrome
Breast neoplasm
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Multiple Submitters
No Conflicts
CA10579941 rs_876659036

10 SubmittersRCV000219424RCV000504617RCV000657700RCV000635907RCV004796114RCV005361290

NM_024675.4(PALB2):c.2835G>A (p.Arg945=) SNV
Germline
Chr16:23623130 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA10579948 rs_876659983

3 SubmittersRCV000217381RCV000483812RCV001320081

NM_024675.4(PALB2):c.2693G>A (p.Trp898Ter) SNV
Germline
Chr16:23626291 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast and/or ovarian cancer
Criteria Provided
Multiple Submitters
No Conflicts
CA10579954 rs_876658983

6 SubmittersRCV000216899RCV000478895RCV002518293RCV003491974

NM_024675.4(PALB2):c.2674G>T (p.Glu892Ter) SNV
Germline
Chr16:23626310 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Inherited breast cancer and ovarian cancer
Criteria Provided
Multiple Submitters
No Conflicts
CA10579956 rs_45476495

6 SubmittersRCV000217992RCV001045962RCV005237756

NM_024675.4(PALB2):c.2667T>A (p.Thr889=) SNV
Germline
Chr16:23626317 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA10579957 rs_876659224

4 SubmittersRCV000216116RCV001118199RCV005090094

NM_024675.4(PALB2):c.2630G>A (p.Trp877Ter) SNV
Germline
Chr16:23626354 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA10579959 rs_876660678

3 SubmittersRCV000213186RCV001064019

NM_024675.4(PALB2):c.2512C>G (p.Gln838Glu) SNV
Germline
Chr16:23629642 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10579963 rs_750650768

6 SubmittersRCV000213341RCV000635607RCV002478788RCV003223625

NM_024675.4(PALB2):c.2506G>C (p.Val836Leu) SNV
Germline
Chr16:23629648 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
B lymphoblastic leukemia lymphoma with t(12
21)(p13
q22)
TEL-AML1 (ETV6-RUNX1)
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA7963565 rs_536644825

6 SubmittersRCV000215537RCV000687946RCV000761094RCV002494591

NM_024675.4(PALB2):c.2506G>A (p.Val836Ile) SNV
Germline
Chr16:23629648 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA7963564 rs_536644825

12 SubmittersRCV000214970RCV000586837RCV000457210RCV001420721RCV005016588RCV005361295

NM_024675.4(PALB2):c.2448C>G (p.Phe816Leu) SNV
Germline
Chr16:23629706 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Criteria Provided
Conflicting Classifications
CA10579970 rs_876659879

4 SubmittersRCV000215749RCV000635843RCV002247661

NM_024675.4(PALB2):c.2437A>G (p.Ile813Val) SNV
Germline
Chr16:23629717 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome Criteria Provided
Conflicting Classifications
CA10579971 rs_766396469

2 SubmittersRCV000216460

NM_024675.4(PALB2):c.2167A>T (p.Met723Leu) SNV
Germline
Chr16:23629987 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA10579981 rs_876660336

5 SubmittersRCV000217611RCV000467128RCV003153509RCV005016605

NM_024675.4(PALB2):c.2167A>G (p.Met723Val) SNV
Germline
Chr16:23629987 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA10579982 rs_876660336

2 SubmittersRCV000214669RCV001350792

NM_024675.4(PALB2):c.2147A>G (p.Asn716Ser) SNV
Germline
Chr16:23630007 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Papillary thyroid carcinoma
Condition: not provided
not specified
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA7963618 rs_148335539

8 SubmittersRCV000214302RCV000458608RCV000761167RCV001567281RCV002271471RCV004532798

NM_024675.4(PALB2):c.2108T>G (p.Leu703Ter) SNV
Germline
Chr16:23630046 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA7963621 rs_752592662

3 SubmittersRCV000223583RCV001221815

NM_024675.4(PALB2):c.1919C>A (p.Ser640Ter) SNV
Germline
Chr16:23630235 Pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Criteria Provided
Multiple Submitters
No Conflicts
CA7963646 rs_760094988

10 SubmittersRCV000214899RCV000479396RCV000545701RCV005016586

NM_024675.4(PALB2):c.1918T>G (p.Ser640Ala) SNV
Germline
Chr16:23630236 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
not specified
Criteria Provided
Conflicting Classifications
CA10579991 rs_876659058

7 SubmittersRCV000221223RCV000635882RCV002478798RCV002509316

NM_024675.4(PALB2):c.1918T>A (p.Ser640Thr) SNV
Germline
Chr16:23630236 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA10579992 rs_876659058

2 SubmittersRCV000221530RCV003133189

NM_024675.4(PALB2):c.1804C>G (p.Gln602Glu) SNV
Germline
Chr16:23630350 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA10579997 rs_876660475

3 SubmittersRCV000218759RCV000538187

NM_024675.4(PALB2):c.1767G>A (p.Thr589=) SNV
Germline
Chr16:23630387 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Familial cancer of breast
not specified
Breast-ovarian cancer, familial, susceptibility to, 5
PALB2-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7963663 rs_769849072

13 SubmittersRCV000217926RCV001121719RCV000457514RCV000436798RCV005365148RCV004532777RCV002478785

NM_024675.4(PALB2):c.1744T>C (p.Ser582Pro) SNV
Germline
Chr16:23630410 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA10579999 rs_876659597

2 SubmittersRCV000214800RCV001316625

NM_024675.4(PALB2):c.1732A>G (p.Ser578Gly) SNV
Germline
Chr16:23630422 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA7963665 rs_764023822

7 SubmittersRCV000217898RCV000464403RCV000985887RCV001030256RCV005361246

NM_024675.4(PALB2):c.1702C>A (p.Gln568Lys) SNV
Germline
Chr16:23630452 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
PALB2-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA10580001 rs_876659354

7 SubmittersRCV000214422RCV000818865RCV002494593RCV004541351RCV004701288

NM_024675.4(PALB2):c.1694G>A (p.Ser565Asn) SNV
Germline
Chr16:23630460 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA10580002 rs_876659914

5 SubmittersRCV000214165RCV000536671RCV001753674RCV004526647

NM_024675.4(PALB2):c.1588C>T (p.Leu530Phe) SNV
Germline
Chr16:23634958 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA10580006 rs_876659671

3 SubmittersRCV000218879RCV000635734

NM_024675.4(PALB2):c.1573G>T (p.Asp525Tyr) SNV
Germline
Chr16:23634973 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA10580007 rs_876659074

2 SubmittersRCV000219759RCV001857775

NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg) SNV
Germline
Chr16:23635006 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA7963698 rs_756778249

12 SubmittersRCV000214985RCV000589880RCV000989570RCV001027798RCV003224228

NM_024675.4(PALB2):c.1456A>G (p.Lys486Glu) SNV
Germline
Chr16:23635090 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10580008 rs_876658949

3 SubmittersRCV000215703RCV000811638RCV001570464

NM_024675.4(PALB2):c.1378C>T (p.Gln460Ter) SNV
Germline
Chr16:23635168 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA10580012 rs_876658166

4 SubmittersRCV000222117RCV001853499

NM_024675.4(PALB2):c.1079A>G (p.Asp360Gly) SNV
Germline
Chr16:23635467 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA10580022 rs_876659751

8 SubmittersRCV000220824RCV000679759RCV000459883RCV002500734

NM_024675.4(PALB2):c.1072C>T (p.Pro358Ser) SNV
Germline
Chr16:23635474 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA10580023 rs_876660876

6 SubmittersRCV000220349RCV000235363RCV000466160RCV002494599

NM_024675.4(PALB2):c.1052C>A (p.Thr351Lys) SNV
Germline
Chr16:23635494 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA10580024 rs_876658656

5 SubmittersRCV000218423RCV000531194RCV005016578

NM_024675.4(PALB2):c.908T>C (p.Leu303Pro) SNV
Germline
Chr16:23635638 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7963747 rs_774057025

5 SubmittersRCV000216402RCV000822728RCV001284671

NM_024675.4(PALB2):c.902A>G (p.Asp301Gly) SNV
Germline
Chr16:23635644 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Pancreatic cancer, susceptibility to, 3
not specified
Criteria Provided
Conflicting Classifications
CA7963748 rs_759014440

8 SubmittersRCV000215213RCV000461086RCV000478906RCV001354911RCV004800343

NM_024675.4(PALB2):c.844A>G (p.Arg282Gly) SNV
Germline
Chr16:23635702 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast and/or ovarian cancer
Criteria Provided
Conflicting Classifications
CA7963752 rs_45447991

9 SubmittersRCV000220267RCV000462094RCV000759905RCV003491976

NM_024675.4(PALB2):c.826C>T (p.His276Tyr) SNV
Germline
Chr16:23635720 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA10580030 rs_876658815

2 SubmittersRCV000215431RCV000544750

NM_024675.4(PALB2):c.773G>A (p.Ser258Asn) SNV
Germline
Chr16:23635773 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7963758 rs_371289600

4 SubmittersRCV000215658RCV000635854RCV002485415

NM_024675.4(PALB2):c.619C>T (p.Pro207Ser) SNV
Germline
Chr16:23635927 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA10580036 rs_374090568

2 SubmittersRCV000214926RCV001370562

NM_024675.4(PALB2):c.595C>T (p.Leu199Phe) SNV
Germline
Chr16:23635951 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA10580037 rs_876660851

3 SubmittersRCV000216403RCV003765443

NM_024675.4(PALB2):c.583A>G (p.Ile195Val) SNV
Germline
Chr16:23635963 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA7963779 rs_760784181

8 SubmittersRCV000215618RCV001030160RCV001234307RCV005016591RCV005365161

NM_024675.4(PALB2):c.541G>T (p.Glu181Ter) SNV
Germline
Chr16:23636005 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA10580039 rs_864622280

4 SubmittersRCV000219378RCV001060848RCV005237732

NM_024675.4(PALB2):c.347T>A (p.Leu116Ter) SNV
Germline
Chr16:23636199 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA10580044 rs_876660465

5 SubmittersRCV000223009RCV000709748RCV003227721

NM_024675.4(PALB2):c.338C>G (p.Pro113Arg) SNV
Germline
Chr16:23636208 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA7963798 rs_374425261

3 SubmittersRCV000219266RCV000552379

NM_024675.4(PALB2):c.308G>A (p.Gly103Glu) SNV
Germline
Chr16:23636238 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA10580046 rs_876660794

2 SubmittersRCV000222248RCV001854715

NM_024675.4(PALB2):c.229T>C (p.Cys77Arg) SNV
Germline
Chr16:23636317 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA7963811 rs_760045493

10 SubmittersRCV000222033RCV000472473RCV000485885RCV001818541RCV005361343

NM_024675.4(PALB2):c.154G>A (p.Val52Ile) SNV
Germline
Chr16:23637907 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10580051 rs_876659444

2 SubmittersRCV000215013RCV000482119

NM_024675.4(PALB2):c.115C>T (p.Gln39Ter) SNV
Germline
Chr16:23637946 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA10580053 rs_876659319

4 SubmittersRCV000223492RCV000551161

NM_024675.4(PALB2):c.48+2T>G SNV
Germline
Chr16:23641108 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
CA10580057 rs_876659679

1 SubmittersRCV000221819

NM_024675.4(PALB2):c.3420G>A (p.Trp1140Ter) SNV
Germline
Chr16:23603600 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA10583349 rs_878855118

2 SubmittersRCV000226507RCV004020882

NM_024675.4(PALB2):c.2964A>G (p.Gln988=) SNV
Germline
Chr16:23623001 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA7963460 rs_777244673

6 SubmittersRCV000229549RCV000563128RCV000759903RCV001192741RCV004725117

NM_024675.4(PALB2):c.2840T>C (p.Leu947Ser) SNV
Germline
Chr16:23623125 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Inherited breast cancer and ovarian cancer
not specified
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA7963465 rs_45464500

10 SubmittersRCV000229185RCV000564890RCV000587839RCV005055099RCV005238770RCV005003582

NM_024675.4(PALB2):c.2624T>C (p.Met875Thr) SNV
Germline
Chr16:23626360 Conflicting classifications of pathogenicity Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA10583359 rs_878855110

3 SubmittersRCV000231157RCV000780566RCV004649110

NM_024675.4(PALB2):c.2594C>G (p.Ser865Ter) SNV
Germline
Chr16:23626390 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA10583360 rs_746604683

3 SubmittersRCV000234617RCV003352808

NM_024675.4(PALB2):c.2509G>T (p.Glu837Ter) SNV
Germline
Chr16:23629645 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Pancreatic cancer, susceptibility to, 3
Hereditary breast ovarian cancer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA10583361 rs_587778587

7 SubmittersRCV000227927RCV000454198RCV000235331RCV001030314RCV001193462

NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn) SNV
Germline
Chr16:23629953 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Condition: not provided
not specified
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA10583365 rs_878855107

17 SubmittersRCV000233965RCV000569446RCV001119746RCV001566044RCV001820767RCV002487088RCV004739637RCV005361461

NM_024675.4(PALB2):c.2066C>T (p.Ser689Leu) SNV
Germline
Chr16:23630088 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA7963627 rs_749602688

6 SubmittersRCV000228021RCV001030274RCV000774634RCV004541455

NM_024675.4(PALB2):c.1753G>A (p.Asp585Asn) SNV
Germline
Chr16:23630401 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10583370 rs_878855102

5 SubmittersRCV000227668RCV000773064RCV002277593

NM_024675.4(PALB2):c.1463G>T (p.Ser488Ile) SNV
Germline
Chr16:23635083 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA7963705 rs_767926590

8 SubmittersRCV000226177RCV000564692RCV000589383RCV002487087

NM_024675.4(PALB2):c.1369G>T (p.Glu457Ter) SNV
Germline
Chr16:23635177 Pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA10583374 rs_878855099

2 SubmittersRCV000231944

NM_024675.4(PALB2):c.1226A>G (p.Tyr409Cys) SNV
Germline
Chr16:23635320 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary cancer
Criteria Provided
Conflicting Classifications
CA10583375 rs_878855097

7 SubmittersRCV000230943RCV000709387RCV000985884RCV003492015

NM_024675.4(PALB2):c.365A>G (p.Asp122Gly) SNV
Germline
Chr16:23636181 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10583383 rs_866367185

4 SubmittersRCV000232654RCV001189069RCV004721317

NM_024675.4(PALB2):c.212-3C>T SNV
Germline
Chr16:23636337 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA10583385 rs_878855106

3 SubmittersRCV000228404RCV000569563

NM_024675.4(PALB2):c.79G>T (p.Glu27Ter) SNV
Germline/somatic
Chr16:23638099 Pathogenic/Likely pathogenic Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Fanconi anemia complementation group N
Lung cancer
PALB2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA10583387 rs_878855122

16 SubmittersRCV000228882RCV000255635RCV000454231RCV001175093RCV002500815RCV003485568RCV002282082RCV004532964

NM_024675.4(PALB2):c.48+7G>C SNV
Germline
Chr16:23641103 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA7963885 rs_190626072

10 SubmittersRCV000230746RCV000580140RCV000433452RCV000586925RCV004541457

NM_024675.4(PALB2):c.7G>T (p.Glu3Ter) SNV
Germline
Chr16:23641151 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Reviewed By Expert Panel
CA10583388 rs_878855123

8 SubmittersRCV000231797RCV000582525RCV000657770

NM_024675.4(PALB2):c.2T>C (p.Met1Thr) SNV
Germline
Chr16:23641156 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA7963891 rs_756519825

4 SubmittersRCV000230496RCV002436040

NM_024675.4(PALB2):c.3492G>A (p.Trp1164Ter) SNV
Germline
Chr16:23603528 Pathogenic Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA10584499 rs_587782217

8 SubmittersRCV000235984RCV000662671RCV001020433

NM_024675.4(PALB2):c.3491G>A (p.Trp1164Ter) SNV
Germline
Chr16:23603529 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA10584500 rs_879254113

6 SubmittersRCV000235914RCV000454361RCV000477362

NM_024675.4(PALB2):c.3436C>G (p.Gln1146Glu) SNV
Germline
Chr16:23603584 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA10584501 rs_879254033

4 SubmittersRCV000236192RCV001854872RCV001183519

NM_024675.4(PALB2):c.2996+5G>T SNV
Germline
Chr16:23622964 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
PALB2-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA10584507 rs_879254193

11 SubmittersRCV000468560RCV000562437RCV000587970RCV004541468RCV005238783

NM_024675.4(PALB2):c.2860G>T (p.Glu954Ter) SNV
Germline
Chr16:23623105 Pathogenic Condition: not provided
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA10584509 rs_879254015

2 SubmittersRCV000235480RCV001854860

NM_024675.4(PALB2):c.2435C>T (p.Pro812Leu) SNV
Germline
Chr16:23629719 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
not specified
Criteria Provided
Conflicting Classifications
CA7963575 rs_774502617

9 SubmittersRCV000235316RCV000635929RCV000575251RCV001357974RCV002494681RCV003330604

NM_024675.4(PALB2):c.2197A>G (p.Thr733Ala) SNV
Germline
Chr16:23629957 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
not specified
Criteria Provided
Conflicting Classifications
CA10584511 rs_879254051

7 SubmittersRCV000236085RCV000470751RCV000571493RCV002487097RCV005230178

NM_024675.4(PALB2):c.2148T>A (p.Asn716Lys) SNV
Germline
Chr16:23630006 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA7963617 rs_770145849

7 SubmittersRCV000236038RCV000464776RCV000574979RCV002479940

NM_024675.4(PALB2):c.2066C>A (p.Ser689Ter) SNV
Germline
Chr16:23630088 Pathogenic Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA10584512 rs_749602688

3 SubmittersRCV000236381RCV003454716RCV002418041

NM_024675.4(PALB2):c.2053A>C (p.Lys685Gln) SNV
Germline
Chr16:23630101 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA10584513 rs_876660397

5 SubmittersRCV000235440RCV001854851RCV000566295

NM_024675.4(PALB2):c.1861C>A (p.Pro621Thr) SNV
Germline
Chr16:23630293 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Criteria Provided
Conflicting Classifications
CA7963654 rs_756116550

10 SubmittersRCV000235273RCV000454184RCV000989565RCV001192764

NM_024675.4(PALB2):c.668T>C (p.Ile223Thr) SNV
Germline
Chr16:23635878 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA7963771 rs_150517167

8 SubmittersRCV000236902RCV000635688RCV000572381RCV001193466

NM_024675.4(PALB2):c.472C>T (p.Gln158Ter) SNV
Germline
Chr16:23636074 Pathogenic/Likely pathogenic Condition: not provided
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA10584523 rs_879254197

3 SubmittersRCV000237059RCV001382726

NM_024675.4(PALB2):c.398G>A (p.Ser133Asn) SNV
Germline
Chr16:23636148 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA10584524 rs_864622411

5 SubmittersRCV000235826RCV000691656RCV000780568RCV000570939

NM_024675.4(PALB2):c.205C>T (p.His69Tyr) SNV
Germline
Chr16:23637856 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA10584525 rs_879253891

8 SubmittersRCV000236918RCV000575557RCV000823428RCV000781688RCV002494677

NM_024675.4(PALB2):c.155T>C (p.Val52Ala) SNV
Germline
Chr16:23637906 Conflicting classifications of pathogenicity Breast neoplasm
Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA7963833 rs_373970237

8 SubmittersRCV000417330RCV000235666RCV000462987RCV000568339

NM_024675.4(PALB2):c.1A>G (p.Met1Val) SNV
Germline
Chr16:23641157 Pathogenic/Likely pathogenic Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA10584527 rs_879254144

5 SubmittersRCV000237093RCV000696235RCV002418043

NM_024675.4(PALB2):c.3234T>A (p.Cys1078Ter) SNV
Germline
Chr16:23607980 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA10588601 rs_886039634

6 SubmittersRCV000254975RCV001525205RCV001855013

NM_024675.4(PALB2):c.3114-1G>A SNV
Germline
Chr16:23614092 Pathogenic/Likely pathogenic Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Multiple Submitters
No Conflicts
CA10588602 rs_886039619

6 SubmittersRCV000255848RCV000551424RCV000569707RCV005361500

NM_024675.4(PALB2):c.2996+1G>T SNV
Germline
Chr16:23622968 Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA10588605 rs_886039626

3 SubmittersRCV000255151RCV001017834RCV001379452

NM_024675.4(PALB2):c.2835-2A>C SNV
Germline
Chr16:23623132 Likely pathogenic Condition: not provided
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA10588606 rs_886039613

2 SubmittersRCV000256178RCV003454780

NM_024675.4(PALB2):c.2514+1G>C SNV
Germline
Chr16:23629639 Likely pathogenic Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA10588607 rs_886039729

5 SubmittersRCV000255296RCV001229856RCV002429197

NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter) SNV
Germline
Chr16:23629786 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia
Hereditary cancer
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA10588608 rs_886039480

11 SubmittersRCV000255054RCV000454204RCV000509375RCV000552634RCV003155937

NM_024675.4(PALB2):c.1496T>A (p.Leu499Ter) SNV
Germline
Chr16:23635050 Pathogenic/Likely pathogenic Condition: not provided
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA10588610 rs_886039620

2 SubmittersRCV000254924RCV001390098

NM_024675.4(PALB2):c.1424C>G (p.Ser475Ter) SNV
Germline
Chr16:23635122 Pathogenic/Likely pathogenic Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA10588611 rs_886039479

4 SubmittersRCV000255228RCV001066196RCV002392782

NM_024675.4(PALB2):c.421C>T (p.Gln141Ter) SNV
Germline
Chr16:23636125 Pathogenic/Likely pathogenic Condition: not provided
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA10588614 rs_886039686

3 SubmittersRCV000256010RCV003454783

NM_024675.4(PALB2):c.178C>T (p.Gln60Ter) SNV
Germline
Chr16:23637883 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA10588615 rs_886039747

4 SubmittersRCV000255924RCV001013160RCV002518769

NM_024675.4(PALB2):c.3202-1G>A SNV
Germline
Chr16:23608013 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Multiple Submitters
No Conflicts
CA16042147 rs_515726111

10 SubmittersRCV000409659RCV001019201RCV003493565RCV002481267

NM_024675.4(PALB2):c.2748+1G>C SNV
Germline
Chr16:23626235 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA16042148 rs_753153576

5 SubmittersRCV000409294RCV001176291RCV003315425RCV003477909

NM_024675.4(PALB2):c.2576C>A (p.Ser859Ter) SNV
Germline
Chr16:23629214 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA16042149 rs_1057517539

4 SubmittersRCV000410429RCV000454290

NM_024675.4(PALB2):c.3G>A (p.Met1Ile) SNV
Germline
Chr16:23641155 Pathogenic/Likely pathogenic Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Multiple Submitters
No Conflicts
CA16042152 rs_1057517585

8 SubmittersRCV000410696RCV000505935RCV000567207RCV004698787

NM_024675.4(PALB2):c.1448C>G (p.Ser483Ter) SNV
Germline
Chr16:23635098 Pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA16607001 rs_1057520736

2 SubmittersRCV000421638RCV001525971

NM_024675.4(PALB2):c.1746C>T (p.Ser582=) SNV
Germline
Chr16:23630408 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16607213 rs_1057520985

6 SubmittersRCV000430741RCV000775902RCV001490679RCV003477918

NM_024675.4(PALB2):c.1685-14T>A SNV
Germline
Chr16:23630483 Conflicting classifications of pathogenicity not specified
Familial cancer of breast
PALB2-related cancer predisposition
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA7963670 rs_780772404

6 SubmittersRCV000443095RCV000663142RCV005355771RCV003584602

NM_024675.4(PALB2):c.1438A>T (p.Lys480Ter) SNV
Germline
Chr16:23635108 Pathogenic Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA16607220 rs_1057520653

6 SubmittersRCV000424678RCV001390153RCV005384711

NM_024675.4(PALB2):c.66A>G (p.Ala22=) SNV
Germline
Chr16:23638112 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA16607223 rs_1057520982

6 SubmittersRCV000923663RCV000569467RCV001119846RCV001456862

NM_024675.4(PALB2):c.2992G>A (p.Gly998Arg) SNV
Germline
Chr16:23622973 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA16607334 rs_1039184417

4 SubmittersRCV000442850RCV000775926RCV001046244

NM_024675.4(PALB2):c.1685-1G>C SNV
Germline
Chr16:23630470 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16607339 rs_1057520645

6 SubmittersRCV000431972RCV001055212RCV002411312

NM_024675.4(PALB2):c.2993G>C (p.Gly998Ala) SNV
Germline
Chr16:23622972 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA16608106 rs_45551636

4 SubmittersRCV000425596RCV000775893RCV001038066

NM_024675.4(PALB2):c.1611G>A (p.Ser537=) SNV
Germline
Chr16:23634935 Conflicting classifications of pathogenicity Familial cancer of breast
Fanconi anemia complementation group N
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
not specified
Criteria Provided
Conflicting Classifications
CA7963693 rs_730881874

10 SubmittersRCV000989569RCV001121721RCV000572139RCV001703482RCV005355718RCV005407090

NM_024675.4(PALB2):c.1424C>A (p.Ser475Ter) SNV
Germline
Chr16:23635122 Pathogenic Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA16608121 rs_886039479

3 SubmittersRCV000436797RCV003449055RCV005384712

NM_024675.4(PALB2):c.3464C>G (p.Ser1155Cys) SNV
Germline
Chr16:23603556 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7963332 rs_755609496

5 SubmittersRCV000454280RCV000529716RCV000480681

NM_024675.4(PALB2):c.3202-2A>C SNV
Germline
Chr16:23608014 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA16609588 rs_1060499827

4 SubmittersRCV000454196RCV000576715

NM_024675.4(PALB2):c.2748+2T>C SNV
Germline
Chr16:23626234 Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA16609594 rs_1060499821

2 SubmittersRCV000454214RCV003449105

NM_024675.4(PALB2):c.2473A>G (p.Arg825Gly) SNV
Germline
Chr16:23629681 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA7963569 rs_745747228

4 SubmittersRCV000454362RCV000764048RCV001861653

NM_024675.4(PALB2):c.1039G>T (p.Glu347Ter) SNV
Germline
Chr16:23635507 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA16609602 rs_1060499812

5 SubmittersRCV000454356RCV003315427RCV003239290

NM_024675.4(PALB2):c.931A>T (p.Lys311Ter) SNV
Germline
Chr16:23635615 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA16609604 rs_1060499831

3 SubmittersRCV000454180RCV003476020

NM_024675.4(PALB2):c.108+1G>A SNV
Germline
Chr16:23638069 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Pancreatic cancer, susceptibility to, 3
Breast cancer, susceptibility to
Criteria Provided
Multiple Submitters
No Conflicts
CA16609606 rs_1060499814

12 SubmittersRCV000454354RCV000466548RCV000484652RCV001258109

NM_024675.4(PALB2):c.106C>T (p.Gln36Ter) SNV
Germline
Chr16:23638072 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Multiple Submitters
No Conflicts
CA16609607 rs_757369748

7 SubmittersRCV000454301RCV001380280RCV000657579RCV000763378

NM_024675.4(PALB2):c.3508C>A (p.His1170Asn) SNV
Germline
Chr16:23603512 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16614807 rs_200283306

3 SubmittersRCV000459786RCV001192088

NM_024675.4(PALB2):c.3035C>T (p.Thr1012Ile) SNV
Germline
Chr16:23621440 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA7963444 rs_761032954

12 SubmittersRCV000575045RCV000479556RCV000475841RCV005018786

NM_024675.4(PALB2):c.2940C>T (p.Ser980=) SNV
Germline
Chr16:23623025 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA7963464 rs_766049739

7 SubmittersRCV000461224RCV000580627RCV001712437RCV005355903

NM_024675.4(PALB2):c.2834+3A>G SNV
Germline
Chr16:23624006 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16614824 rs_1060502766

2 SubmittersRCV000474406RCV001016728

NM_024675.4(PALB2):c.1553C>G (p.Ser518Ter) SNV
Germline
Chr16:23634993 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
PALB2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA16614852 rs_1060502805

5 SubmittersRCV000469612RCV001012094RCV004529598

NM_024675.4(PALB2):c.2749-1G>C SNV
Germline
Chr16:23624095 Likely pathogenic Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA16614853 rs_1060502804

3 SubmittersRCV000461242RCV002509392RCV005452993

NM_024675.4(PALB2):c.1537A>G (p.Thr513Ala) SNV
Germline
Chr16:23635009 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Carcinoma of colon
Criteria Provided
Conflicting Classifications
CA16614855 rs_1060502741

7 SubmittersRCV000474363RCV000575626RCV000587874RCV002480416RCV001030235

NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter) SNV
Germline
Chr16:23626254 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA16614856 rs_995629797

9 SubmittersRCV000459119RCV000568217RCV002489062RCV000657580

NM_024675.4(PALB2):c.2677G>T (p.Asp893Tyr) SNV
Germline
Chr16:23626307 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7963508 rs_765077104

8 SubmittersRCV000457988RCV001016287RCV003991027RCV005243235

NM_024675.4(PALB2):c.1383T>A (p.Ser461Arg) SNV
Germline
Chr16:23635163 Conflicting classifications of pathogenicity Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA7963711 rs_768482110

8 SubmittersRCV000470251RCV000781681RCV000568070RCV000679760RCV002481444

NM_024675.4(PALB2):c.1084C>G (p.Leu362Val) SNV
Germline
Chr16:23635462 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16614861 rs_1060502758

2 SubmittersRCV000475695RCV000572723

NM_024675.4(PALB2):c.880A>G (p.Lys294Glu) SNV
Germline
Chr16:23635666 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7963750 rs_753676934

5 SubmittersRCV000468876RCV000574047RCV002223850

NM_024675.4(PALB2):c.2514+8C>T SNV
Germline
Chr16:23629632 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA16614865 rs_1060504706

4 SubmittersRCV000470502RCV004017633RCV004740248

NM_024675.4(PALB2):c.2389C>A (p.Gln797Lys) SNV
Germline
Chr16:23629765 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16614866 rs_1060502768

4 SubmittersRCV000476517RCV000567346RCV003318580

NM_024675.4(PALB2):c.2188A>G (p.Ile730Val) SNV
Germline
Chr16:23629966 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Malignant tumor of breast
Criteria Provided
Conflicting Classifications
CA16614873 rs_1060502735

8 SubmittersRCV000468216RCV000479293RCV000563382RCV001199879RCV001354437

NM_024675.4(PALB2):c.304G>A (p.Val102Ile) SNV
Germline
Chr16:23636242 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7963803 rs_778573607

6 SubmittersRCV000465446RCV000562562RCV003332178

NM_024675.4(PALB2):c.45A>G (p.Glu15=) SNV
Germline
Chr16:23641113 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Familial pancreatic carcinoma
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16614880 rs_1060504718

6 SubmittersRCV000828254RCV001085519RCV005355905RCV003168912

NM_024675.4(PALB2):c.1435C>T (p.Gln479Ter) SNV
Germline
Chr16:23635111 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA16614893 rs_1060502761

2 SubmittersRCV000463150RCV001011563

NM_024675.4(PALB2):c.1217C>T (p.Ala406Val) SNV
Germline
Chr16:23635329 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA16614898 rs_1060502757

8 SubmittersRCV000463216RCV000569051RCV001561387RCV002481447

NM_024675.4(PALB2):c.1144A>C (p.Ser382Arg) SNV
Germline
Chr16:23635402 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16614900 rs_1060502737

3 SubmittersRCV000476970RCV000775933

NM_024675.4(PALB2):c.3391A>G (p.Ile1131Val) SNV
Germline
Chr16:23603629 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
not specified
Criteria Provided
Conflicting Classifications
CA7963344 rs_774517454

7 SubmittersRCV000456527RCV000589068RCV000771464RCV005355850RCV004596198

NM_024675.4(PALB2):c.3351-2A>G SNV
Germline
Chr16:23603671 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA16615066 rs_1060502764

5 SubmittersRCV000466376RCV001020064RCV004721374

NM_024675.4(PALB2):c.3256C>G (p.Arg1086Gly) SNV
Germline
Chr16:23607958 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Familial pancreatic carcinoma
Criteria Provided
Conflicting Classifications
CA16615072 rs_587776527

6 SubmittersRCV000461441RCV000773077RCV003319358RCV003321613RCV005355852

NM_024675.4(PALB2):c.2835-3T>C SNV
Germline
Chr16:23623133 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA16615078 rs_1060502795

4 SubmittersRCV000468775RCV001016565RCV004596199

NM_024675.4(PALB2):c.2711G>A (p.Trp904Ter) SNV
Germline
Chr16:23626273 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Multiple Submitters
No Conflicts
CA16615083 rs_1060502726

7 SubmittersRCV000465081RCV000566729RCV000522916RCV005355847

NM_024675.4(PALB2):c.2328C>A (p.Phe776Leu) SNV
Germline
Chr16:23629826 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA16615088 rs_45508997

4 SubmittersRCV000469475RCV004943901RCV005398628

NM_024675.4(PALB2):c.2303G>C (p.Cys768Ser) SNV
Germline
Chr16:23629851 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16615091 rs_1060502770

3 SubmittersRCV000471672RCV001015017

NM_024675.4(PALB2):c.1696C>T (p.Arg566Cys) SNV
Germline
Chr16:23630458 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA7963668 rs_746582620

10 SubmittersRCV000461240RCV000586825RCV000563652RCV002481446

NM_024675.4(PALB2):c.1366G>T (p.Glu456Ter) SNV
Germline
Chr16:23635180 Pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA16615101 rs_1060502785

3 SubmittersRCV000472293

NM_024675.4(PALB2):c.1103A>G (p.Asn368Ser) SNV
Germline
Chr16:23635443 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16615103 rs_1060502799

4 SubmittersRCV000469658RCV000563832RCV003153633

NM_024675.4(PALB2):c.727A>C (p.Thr243Pro) SNV
Germline
Chr16:23635819 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16615106 rs_1060502747

4 SubmittersRCV000464943RCV000567643RCV001848813

NM_024675.4(PALB2):c.602G>A (p.Ser201Asn) SNV
Germline
Chr16:23635944 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16615115 rs_1060502790

2 SubmittersRCV000476599RCV004943900

NM_024675.4(PALB2):c.206A>T (p.His69Leu) SNV
Germline
Chr16:23637855 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA16615126 rs_749443090

8 SubmittersRCV000476673RCV000485056RCV000569594RCV005018787

NM_024675.4(PALB2):c.127A>G (p.Lys43Glu) SNV
Germline
Chr16:23637934 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA7963836 rs_765125459

11 SubmittersRCV000474623RCV000580520RCV000485071RCV002481445

NM_024675.4(PALB2):c.2725C>G (p.Leu909Val) SNV
Germline
Chr16:23626259 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16615221 rs_1060502739

3 SubmittersRCV000463483RCV000572861

NM_024675.4(PALB2):c.2587-2A>C SNV
Germline
Chr16:23626399 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16615225 rs_1060502787

3 SubmittersRCV000460478RCV002429521

NM_024675.4(PALB2):c.2438T>C (p.Ile813Thr) SNV
Germline
Chr16:23629716 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA7963573 rs_763191051

9 SubmittersRCV000476976RCV000588415RCV000564912RCV004533194

NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter) SNV
Germline
Chr16:23629779 Pathogenic/Likely pathogenic Familial cancer of breast
Fanconi anemia complementation group N
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA16615240 rs_1060502748

5 SubmittersRCV000457054RCV001813781RCV004649161

NM_024675.4(PALB2):c.1492G>A (p.Asp498Asn) SNV
Germline
Chr16:23635054 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA16615265 rs_75023630

4 SubmittersRCV000466463RCV000572623RCV002496776

NM_024675.4(PALB2):c.1343G>A (p.Ser448Asn) SNV
Germline
Chr16:23635203 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16615266 rs_956172059

5 SubmittersRCV000464002RCV000564122RCV000486431

NM_024675.4(PALB2):c.1213C>G (p.Pro405Ala) SNV
Germline
Chr16:23635333 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
PALB2-related disorder
Ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA7963723 rs_545119348

9 SubmittersRCV000456874RCV000561159RCV003492059RCV004529596RCV003153632RCV005355849

NM_024675.4(PALB2):c.1048C>T (p.Gln350Ter) SNV
Germline
Chr16:23635498 Pathogenic Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA16615273 rs_1060502788

5 SubmittersRCV000476491RCV000520926RCV002402280

NM_024675.4(PALB2):c.661G>A (p.Val221Ile) SNV
Germline
Chr16:23635885 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16615301 rs_1060502773

7 SubmittersRCV000462286RCV003324751RCV005355851RCV000569599

NM_024675.4(PALB2):c.510A>C (p.Arg170Ser) SNV
Germline
Chr16:23636036 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16615302 rs_1060502796

5 SubmittersRCV000474642RCV000571001RCV001294231RCV003477982

NM_024675.4(PALB2):c.3421G>A (p.Asp1141Asn) SNV
Germline
Chr16:23603599 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA16620112 rs_1064795975

3 SubmittersRCV000480747RCV004943925RCV002525917

NM_024675.4(PALB2):c.3122A>C (p.Lys1041Thr) SNV
Germline
Chr16:23614083 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA7963418 rs_781663559

6 SubmittersRCV000478421RCV000635632RCV000708730

NM_024675.4(PALB2):c.3114-6T>C SNV
Germline
Chr16:23614097 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA16620116 rs_1064794886

3 SubmittersRCV000482960RCV001078733

NM_024675.4(PALB2):c.3054G>T (p.Glu1018Asp) SNV
Germline
Chr16:23621421 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
not specified
Criteria Provided
Conflicting Classifications
CA16620118 rs_183489969

7 SubmittersRCV000481068RCV000561822RCV000694700RCV001030372RCV002268123

NM_024675.4(PALB2):c.2875G>T (p.Val959Leu) SNV
Germline
Chr16:23623090 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA16620123 rs_1064793658

4 SubmittersRCV000484497RCV000562675RCV001865437

NM_024675.4(PALB2):c.2836G>A (p.Ala946Thr) SNV
Germline
Chr16:23623129 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16620124 rs_878855113

3 SubmittersRCV000484044RCV001305631RCV004943923

NM_024675.4(PALB2):c.2614G>A (p.Val872Met) SNV
Germline
Chr16:23626370 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16620129 rs_1064793628

4 SubmittersRCV000484695RCV000696384RCV004659056

NM_024675.4(PALB2):c.2422G>A (p.Gly808Arg) SNV
Germline
Chr16:23629732 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16620133 rs_1064795507

5 SubmittersRCV000698122RCV000775954RCV000486954

NM_024675.4(PALB2):c.2411C>T (p.Ser804Phe) SNV
Germline
Chr16:23629743 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA7963582 rs_149836639

7 SubmittersRCV000481392RCV000581656RCV000635655RCV002475930

NM_024675.4(PALB2):c.2340C>T (p.Gly780=) SNV
Germline
Chr16:23629814 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16620134 rs_1064794853

4 SubmittersRCV000485867RCV000814645RCV004943920

NM_024675.4(PALB2):c.2326T>C (p.Phe776Leu) SNV
Germline
Chr16:23629828 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA7963593 rs_764925691

7 SubmittersRCV000486202RCV000662841RCV001015195

NM_024675.4(PALB2):c.1600T>G (p.Ser534Ala) SNV
Germline
Chr16:23634946 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Chordoma
Criteria Provided
Conflicting Classifications
CA16620143 rs_1064793824

5 SubmittersRCV000484915RCV000689372RCV001012375RCV002266967

NM_024675.4(PALB2):c.1491T>G (p.Asn497Lys) SNV
Germline
Chr16:23635055 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA7963703 rs_374707677

3 SubmittersRCV000635954RCV000486048RCV001011852

NM_024675.4(PALB2):c.1463G>C (p.Ser488Thr) SNV
Germline
Chr16:23635083 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA16620145 rs_767926590

5 SubmittersRCV000486572RCV000538747RCV002395159RCV003315431

NM_024675.4(PALB2):c.1337A>G (p.Asp446Gly) SNV
Germline
Chr16:23635209 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA7963717 rs_146434474

3 SubmittersRCV000478568RCV001010834RCV000798423

NM_024675.4(PALB2):c.1179A>G (p.Lys393=) SNV
Germline
Chr16:23635367 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA16620151 rs_976340416

5 SubmittersRCV000480231RCV000567685RCV001396731

NM_024675.4(PALB2):c.769G>C (p.Gly257Arg) SNV
Germline
Chr16:23635777 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA16620155 rs_587780824

3 SubmittersRCV000485497RCV002402401RCV003607293

NM_024675.4(PALB2):c.742G>C (p.Val248Leu) SNV
Germline
Chr16:23635804 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA16620157 rs_572102702

4 SubmittersRCV000478004RCV000635771RCV002383910RCV005355924

NM_024675.4(PALB2):c.163C>T (p.Gln55Ter) SNV
Germline
Chr16:23637898 Pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA16620162 rs_1064793772

2 SubmittersRCV000482275RCV003168945

NM_024675.4(PALB2):c.108+9A>G SNV
Germline
Chr16:23638061 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA16620164 rs_1064795783

2 SubmittersRCV000482406RCV001495481

NM_024675.4(PALB2):c.20A>G (p.Lys7Arg) SNV
Germline
Chr16:23641138 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA16620166 rs_947155109

10 SubmittersRCV000702590RCV000483460RCV000571040RCV003226305RCV004527591

NM_024675.4(PALB2):c.643G>T (p.Glu215Ter) SNV
Germline
Chr16:23635903 Pathogenic Breast neoplasm
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395136539 rs_1555461693

2 SubmittersRCV000504603RCV001385716

NM_024675.4(PALB2):c.62T>G (p.Leu21Ter) SNV
Germline
Chr16:23638116 Pathogenic Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA7963863 rs_769240800

9 SubmittersRCV000507280RCV000535566RCV000575810

NM_024675.4(PALB2):c.3324C>A (p.Tyr1108Ter) SNV
Germline
Chr16:23607890 Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395139372 rs_1218512317

2 SubmittersRCV000523756RCV003362812

NM_024675.4(PALB2):c.1685-2A>G SNV
Germline
Chr16:23630471 Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Multiple Submitters
No Conflicts
CA7963669 rs_754660432

6 SubmittersRCV000519126RCV000568799RCV001037839RCV004527630RCV005411471

NM_024675.4(PALB2):c.119G>A (p.Arg40Lys) SNV
Germline
Chr16:23637942 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA279501900 rs_573118236

5 SubmittersRCV000523351RCV001063588RCV000774647RCV003446134

NM_024675.4(PALB2):c.2596G>T (p.Gly866Cys) SNV
Germline
Chr16:23626388 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA7963516 rs_780415750

5 SubmittersRCV000536489RCV000759899RCV001187392RCV004596242

NM_024675.4(PALB2):c.2017G>A (p.Glu673Lys) SNV
Germline
Chr16:23630137 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395127047 rs_1236182341

3 SubmittersRCV000540647RCV000569513

NM_024675.4(PALB2):c.1643C>T (p.Ser548Leu) SNV
Germline
Chr16:23634903 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA395130164 rs_1241049372

3 SubmittersRCV000547156RCV000571222RCV002259347

NM_024675.4(PALB2):c.1133C>T (p.Pro378Leu) SNV
Germline
Chr16:23635413 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA395133627 rs_1442895662

4 SubmittersRCV000526864RCV002448657RCV002293450

NM_024675.4(PALB2):c.1004A>G (p.Asn335Ser) SNV
Germline
Chr16:23635542 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA395134568 rs_1368473544

4 SubmittersRCV000554257RCV000777235RCV004719858

NM_024675.4(PALB2):c.223A>T (p.Lys75Ter) SNV
Germline
Chr16:23636323 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Multiple Submitters
No Conflicts
CA395138968 rs_1555461875

9 SubmittersRCV000557714RCV001014881RCV001008028RCV005357565

NM_024675.4(PALB2):c.3436C>T (p.Gln1146Ter) SNV
Germline
Chr16:23603584 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395138158 rs_879254033

3 SubmittersRCV000533343RCV002456088

NM_024675.4(PALB2):c.3324C>G (p.Tyr1108Ter) SNV
Germline
Chr16:23607890 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA395139370 rs_1218512317

7 SubmittersRCV000550532RCV001019991RCV004592566

NM_024675.4(PALB2):c.3476G>T (p.Trp1159Leu) SNV
Germline
Chr16:23603544 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA279524947 rs_587782050

6 SubmittersRCV000547300RCV000564987RCV003317262RCV003329296

NM_024675.4(PALB2):c.2821A>G (p.Ile941Val) SNV
Germline
Chr16:23624022 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA7963481 rs_778602038

9 SubmittersRCV000534984RCV000759902RCV000572648RCV005004225

NM_024675.4(PALB2):c.2515-3C>T SNV
Germline
Chr16:23629278 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA279491568 rs_957106428

4 SubmittersRCV000543762RCV001015746RCV001775854

NM_024675.4(PALB2):c.2290A>G (p.Lys764Glu) SNV
Germline
Chr16:23629864 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA7963599 rs_573744591

3 SubmittersRCV000551829RCV000771302

NM_024675.4(PALB2):c.1765A>G (p.Thr589Ala) SNV
Germline
Chr16:23630389 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA395128203 rs_1437053825

4 SubmittersRCV000550043RCV001013028RCV003478137

NM_024675.4(PALB2):c.1471G>A (p.Ala491Thr) SNV
Germline
Chr16:23635075 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA279498326 rs_577969558

5 SubmittersRCV000555891RCV000563308RCV001545090

NM_024675.4(PALB2):c.1082C>G (p.Thr361Ser) SNV
Germline
Chr16:23635464 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395133936 rs_1345668733

2 SubmittersRCV000557004RCV005384760

NM_024675.4(PALB2):c.1061C>G (p.Ser354Cys) SNV
Germline
Chr16:23635485 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395134068 rs_1555461474

2 SubmittersRCV000532399RCV005384759

NM_024675.4(PALB2):c.1066A>G (p.Lys356Glu) SNV
Germline
Chr16:23635480 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Familial pancreatic carcinoma
Condition: not provided
Criteria Provided
Conflicting Classifications
CA395134035 rs_1202130508

9 SubmittersRCV000544610RCV000575442RCV001174761RCV005357564RCV001538610

NM_024675.4(PALB2):c.931A>G (p.Lys311Glu) SNV
Germline
Chr16:23635615 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA395135258 rs_1060499831

5 SubmittersRCV000528073RCV000564202RCV001584261

NM_024675.4(PALB2):c.935G>A (p.Ser312Asn) SNV
Germline
Chr16:23635611 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA395135226 rs_1407319475

4 SubmittersRCV000553560RCV000567058RCV001800745

NM_024675.4(PALB2):c.892G>A (p.Val298Ile) SNV
Germline
Chr16:23635654 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA395135620 rs_1060502765

5 SubmittersRCV000551680RCV000563746RCV001800744RCV005357568

NM_024675.4(PALB2):c.828C>T (p.His276=) SNV
Germline
Chr16:23635718 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial ovarian cancer
Fanconi anemia complementation group N
Malignant tumor of breast
Criteria Provided
Conflicting Classifications
CA279499381 rs_911713488

9 SubmittersRCV000557022RCV000567452RCV001171908RCV001357885RCV001118311RCV001354533

NM_024675.4(PALB2):c.718C>A (p.Pro240Thr) SNV
Germline
Chr16:23635828 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA7963768 rs_757567654

5 SubmittersRCV000530439RCV000568617RCV001030167RCV001118312

NM_024675.4(PALB2):c.566G>T (p.Arg189Ile) SNV
Germline
Chr16:23635980 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA7963780 rs_764180110

3 SubmittersRCV000535087RCV001189068

NM_024675.4(PALB2):c.406A>T (p.Ser136Cys) SNV
Germline
Chr16:23636140 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA7963796 rs_144496685

5 SubmittersRCV000542390RCV001021800RCV004525963

NM_024675.4(PALB2):c.3394T>C (p.Leu1132=) SNV
Germline
Chr16:23603626 Conflicting classifications of pathogenicity Familial cancer of breast
not specified
Fanconi anemia complementation group N
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA494173743 rs_1282821765

7 SubmittersRCV000528385RCV000602592RCV001121623RCV001020184RCV001796099

NM_024675.4(PALB2):c.2452T>C (p.Phe818Leu) SNV
Germline
Chr16:23629702 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395124159 rs_1555460328

3 SubmittersRCV000546200RCV001180795

NM_024675.4(PALB2):c.1702C>T (p.Gln568Ter) SNV
Germline
Chr16:23630452 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395128442 rs_876659354

3 SubmittersRCV000549307RCV002413486

NM_024675.4(PALB2):c.1507G>C (p.Ala503Pro) SNV
Germline
Chr16:23635039 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA395131030 rs_1555461243

5 SubmittersRCV000540105RCV000579884RCV001755821

NM_024675.4(PALB2):c.1458A>G (p.Lys486=) SNV
Germline
Chr16:23635088 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA494461445 rs_1555461270

4 SubmittersRCV000526724RCV000985885RCV004943959

NM_024675.4(PALB2):c.1192G>A (p.Val398Met) SNV
Germline
Chr16:23635354 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7963726 rs_769097541

5 SubmittersRCV000553689RCV000771520RCV001030202

NM_024675.4(PALB2):c.1165C>G (p.Leu389Val) SNV
Germline
Chr16:23635381 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA395133462 rs_1555461427

4 SubmittersRCV000552765RCV000777229RCV003236811

NM_024675.4(PALB2):c.290C>A (p.Ser97Tyr) SNV
Germline
Chr16:23636256 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA7963804 rs_776902295

3 SubmittersRCV000554765RCV000580967

NM_024675.4(PALB2):c.3165C>G (p.Tyr1055Ter) SNV
Germline
Chr16:23614040 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395141266 rs_876658157

3 SubmittersRCV000565155RCV003451225

NM_024675.4(PALB2):c.2920A>G (p.Lys974Glu) SNV
Germline
Chr16:23623045 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Condition: not provided
Criteria Provided
Conflicting Classifications
CA395144193 rs_1418709183

5 SubmittersRCV000568691RCV000817606RCV002491131RCV003128630

NM_024675.4(PALB2):c.3500C>T (p.Thr1167Ile) SNV
Germline
Chr16:23603520 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA395137900 rs_1308784980

8 SubmittersRCV000571848RCV000635737RCV000756459RCV005018978

NM_024675.4(PALB2):c.2580G>T (p.Glu860Asp) SNV
Germline
Chr16:23629210 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA395123652 rs_1348398121

5 SubmittersRCV000562114RCV000704755RCV005357695

NM_024675.4(PALB2):c.2509G>C (p.Glu837Gln) SNV
Germline
Chr16:23629645 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA395123935 rs_587778587

4 SubmittersRCV000566274RCV001305394RCV004592701

NM_024675.4(PALB2):c.2953T>C (p.Ser985Pro) SNV
Germline
Chr16:23623012 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA7963462 rs_139726856

4 SubmittersRCV000572069RCV000635674

NM_024675.4(PALB2):c.2858A>G (p.Asp953Gly) SNV
Germline
Chr16:23623107 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA395144455 rs_1555459583

5 SubmittersRCV000564938RCV000814534RCV003478226

NM_024675.4(PALB2):c.2245G>T (p.Glu749Ter) SNV
Germline
Chr16:23629909 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Multiple Submitters
No Conflicts
CA395125490 rs_1555460431

5 SubmittersRCV000568921RCV001242094RCV003338667

NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter) SNV
Germline
Chr16:23629936 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA395125558 rs_1555460445

7 SubmittersRCV000567438RCV000989559RCV000587693RCV003318598

NM_024675.4(PALB2):c.2787T>G (p.Tyr929Ter) SNV
Germline
Chr16:23624056 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
CA395145066 rs_876660669

1 SubmittersRCV000568858

NM_024675.4(PALB2):c.2749-2A>C SNV
Germline
Chr16:23624096 Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395145283 rs_1555459747

3 SubmittersRCV000574502RCV001858134

NM_024675.4(PALB2):c.1945A>T (p.Lys649Ter) SNV
Germline
Chr16:23630209 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395127417 rs_1555460579

4 SubmittersRCV000563292RCV001224726

NM_024675.4(PALB2):c.3350+4A>C SNV
Germline
Chr16:23607860 Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA658658454 rs_180177136

2 SubmittersRCV000565846RCV000701534

NM_024675.4(PALB2):c.3201G>A (p.Met1067Ile) SNV
Germline
Chr16:23614004 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395141087 rs_1555458809

4 SubmittersRCV000561229RCV000635884

NM_024675.4(PALB2):c.3091A>G (p.Ile1031Val) SNV
Germline
Chr16:23621384 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome Criteria Provided
Conflicting Classifications
CA7963438 rs_757946618

2 SubmittersRCV000561086

NM_024675.4(PALB2):c.2221G>A (p.Gly741Ser) SNV
Germline
Chr16:23629933 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA395125550 rs_1555460440

5 SubmittersRCV000565945RCV000690008RCV001030287

NM_024675.4(PALB2):c.1783G>A (p.Asp595Asn) SNV
Germline
Chr16:23630371 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395128128 rs_1555460653

2 SubmittersRCV000561858RCV000804639

NM_024675.4(PALB2):c.2026A>C (p.Ile676Leu) SNV
Germline
Chr16:23630128 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA7963636 rs_761478794

6 SubmittersRCV000563462RCV000764049RCV000989562

NM_024675.4(PALB2):c.2748+1G>A SNV
Germline
Chr16:23626235 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Criteria Provided
Multiple Submitters
No Conflicts
CA279488993 rs_753153576

8 SubmittersRCV000563623RCV001234382RCV000985891RCV005018988

NM_024675.4(PALB2):c.1684+1G>T SNV
Germline
Chr16:23634861 Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395129863 rs_1555461148

4 SubmittersRCV000572683RCV002221556RCV003485609

NM_024675.4(PALB2):c.2632G>T (p.Glu878Ter) SNV
Germline
Chr16:23626352 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA395122165 rs_1555459999

4 SubmittersRCV000561696RCV000635833RCV001030334

NM_024675.4(PALB2):c.1660G>A (p.Glu554Lys) SNV
Germline
Chr16:23634886 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA7963687 rs_377486858

5 SubmittersRCV000565852RCV001053537RCV001584375RCV005231088

NM_024675.4(PALB2):c.2461A>T (p.Asn821Tyr) SNV
Germline
Chr16:23629693 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Criteria Provided
Conflicting Classifications
CA279492004 rs_958566673

7 SubmittersRCV000561459RCV001240791RCV003151105

NM_024675.4(PALB2):c.1506G>C (p.Lys502Asn) SNV
Germline
Chr16:23635040 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA7963701 rs_371142570

4 SubmittersRCV000563604RCV000691734

NM_024675.4(PALB2):c.2402A>G (p.Asp801Gly) SNV
Germline
Chr16:23629752 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395124448 rs_1555460348

3 SubmittersRCV000563156RCV001306017

NM_024675.4(PALB2):c.1327A>T (p.Lys443Ter) SNV
Germline
Chr16:23635219 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395132293 rs_1555461339

3 SubmittersRCV000574863RCV000814465

NM_024675.4(PALB2):c.2234A>G (p.Lys745Arg) SNV
Germline
Chr16:23629920 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Carcinoma of colon
Condition: not provided
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA7963609 rs_142343372

9 SubmittersRCV000566180RCV000689640RCV001030288RCV001775883RCV002491122

NM_024675.4(PALB2):c.1675C>T (p.Gln559Ter) SNV
Germline
Chr16:23634871 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Gastric cancer
Criteria Provided
Multiple Submitters
No Conflicts
CA395129920 rs_1555461154

8 SubmittersRCV000566479RCV000989568RCV001800773RCV003159958

NM_024675.4(PALB2):c.2042A>C (p.Lys681Thr) SNV
Germline
Chr16:23630112 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395126889 rs_1555460514

3 SubmittersRCV000570278RCV001035439

NM_024675.4(PALB2):c.1994A>T (p.Asp665Val) SNV
Germline
Chr16:23630160 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395127211 rs_1555460531

3 SubmittersRCV000563467RCV001324301

NM_024675.4(PALB2):c.1833C>A (p.Asp611Glu) SNV
Germline
Chr16:23630321 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA7963656 rs_779184831

8 SubmittersRCV000575169RCV000586706RCV000801789

NM_024675.4(PALB2):c.481G>C (p.Asp161His) SNV
Germline
Chr16:23636065 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7963788 rs_769841151

6 SubmittersRCV000566918RCV000817677RCV002268179RCV003318597

NM_024675.4(PALB2):c.371C>T (p.Thr124Ile) SNV
Germline
Chr16:23636175 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA279500159 rs_45457297

4 SubmittersRCV000562435RCV000693977RCV003235296RCV004689798

NM_024675.4(PALB2):c.1012C>A (p.Pro338Thr) SNV
Germline
Chr16:23635534 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395134450 rs_560853558

2 SubmittersRCV000566139RCV001858211

NM_024675.4(PALB2):c.1243A>C (p.Ser415Arg) SNV
Germline
Chr16:23635303 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395132937 rs_1555461376

2 SubmittersRCV000570108RCV001039556

NM_024675.4(PALB2):c.854C>G (p.Ser285Ter) SNV
Germline
Chr16:23635692 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
CA395135849 rs_180177094

1 SubmittersRCV000561198

NM_024675.4(PALB2):c.1176A>G (p.Glu392=) SNV
Germline
Chr16:23635370 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Criteria Provided
Conflicting Classifications
CA494461843 rs_1555461423

5 SubmittersRCV000570728RCV001423280RCV003321674

NM_024675.4(PALB2):c.808A>G (p.Ser270Gly) SNV
Germline
Chr16:23635738 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA395136000 rs_1347076714

5 SubmittersRCV000563900RCV000807027RCV000985895

NM_024675.4(PALB2):c.43G>A (p.Glu15Lys) SNV
Germline
Chr16:23641115 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA395141028 rs_730881884

4 SubmittersRCV000571125RCV000635761RCV004800469

NM_024675.4(PALB2):c.22C>T (p.Pro8Ser) SNV
Germline
Chr16:23641136 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395141151 rs_876660586

2 SubmittersRCV000575831RCV001858135

NM_024675.4(PALB2):c.736A>T (p.Thr246Ser) SNV
Germline
Chr16:23635810 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA395136241 rs_1555461659

5 SubmittersRCV000567314RCV000699347RCV001775886

NM_024675.4(PALB2):c.560C>A (p.Pro187His) SNV
Germline
Chr16:23635986 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
Hereditary cancer
Criteria Provided
Conflicting Classifications
CA7963781 rs_371582757

11 SubmittersRCV000563795RCV000635903RCV002476221RCV003448324RCV003492103

NM_024675.4(PALB2):c.509G>C (p.Arg170Thr) SNV
Germline
Chr16:23636037 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA279499902 rs_898765598

7 SubmittersRCV000564267RCV000818311RCV001030155

NM_024675.4(PALB2):c.193C>G (p.Pro65Ala) SNV
Germline
Chr16:23637868 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395139040 rs_1229828972

2 SubmittersRCV000564430RCV000704290

NM_024675.4(PALB2):c.850A>G (p.Thr284Ala) SNV
Germline
Chr16:23635696 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395135866 rs_1555461584

4 SubmittersRCV000575140RCV001030183RCV003607310

NM_024675.4(PALB2):c.682C>T (p.Gln228Ter) SNV
Germline
Chr16:23635864 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Reviewed By Expert Panel
CA395136420 rs_1327399690

5 SubmittersRCV000573011RCV000635756RCV003987611

NM_024675.4(PALB2):c.280G>C (p.Glu94Gln) SNV
Germline
Chr16:23636266 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395138842 rs_45602040

2 SubmittersRCV000566283RCV001853787

NM_024675.4(PALB2):c.233T>C (p.Val78Ala) SNV
Germline
Chr16:23636313 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395138944 rs_1313634930

4 SubmittersRCV000575076RCV001044744

NM_024675.4(PALB2):c.7G>A (p.Glu3Lys) SNV
Germline
Chr16:23641151 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395141243 rs_878855123

2 SubmittersRCV000561851RCV001064138

NM_024675.4(PALB2):c.3130C>T (p.Gln1044Ter) SNV
Germline
Chr16:23614075 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395141418 rs_766394024

5 SubmittersRCV000565870RCV000700246RCV003155951

NM_024675.4(PALB2):c.2834+1G>C SNV
Germline
Chr16:23624008 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA395144749 rs_587776419

3 SubmittersRCV000569964RCV001858210RCV003320696

NM_024675.4(PALB2):c.2512C>T (p.Gln838Ter) SNV
Germline
Chr16:23629642 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395123923 rs_750650768

6 SubmittersRCV000561038RCV001053672RCV001553686

NM_024675.4(PALB2):c.2503T>A (p.Ser835Thr) SNV
Germline
Chr16:23629651 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395123952 rs_1343435250

2 SubmittersRCV000562867RCV001858209

NM_024675.4(PALB2):c.2494C>T (p.His832Tyr) SNV
Germline
Chr16:23629660 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Criteria Provided
Conflicting Classifications
CA279491908 rs_901786175

4 SubmittersRCV000568602RCV000635698RCV001174939

NM_024675.4(PALB2):c.1883A>C (p.Lys628Thr) SNV
Germline
Chr16:23630271 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA279493367 rs_954390684

6 SubmittersRCV000570203RCV000706639RCV001584379RCV004800473

NM_024675.4(PALB2):c.1784A>G (p.Asp595Gly) SNV
Germline
Chr16:23630370 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395128119 rs_1555460652

2 SubmittersRCV000571419RCV000812280

NM_024675.4(PALB2):c.1648A>T (p.Lys550Ter) SNV
Germline
Chr16:23634898 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395130127 rs_1555461178

3 SubmittersRCV000569937RCV001853819

NM_024675.4(PALB2):c.1562C>T (p.Thr521Ile) SNV
Germline
Chr16:23634984 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395130739 rs_1555461218

2 SubmittersRCV000571175RCV001304806

NM_024675.4(PALB2):c.1377C>A (p.Asp459Glu) SNV
Germline
Chr16:23635169 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA7963712 rs_771002573

3 SubmittersRCV000564673RCV001218569

NM_024675.4(PALB2):c.1292G>A (p.Ser431Asn) SNV
Germline
Chr16:23635254 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Criteria Provided
Conflicting Classifications
CA395132501 rs_1555461357

4 SubmittersRCV000561985RCV000635950RCV000780557

NM_024675.4(PALB2):c.1141C>T (p.Leu381Phe) SNV
Germline
Chr16:23635405 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395133592 rs_1555461435

2 SubmittersRCV000566800RCV001239808

NM_024675.4(PALB2):c.814G>T (p.Glu272Ter) SNV
Germline
Chr16:23635732 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
CA395135986 rs_515726127

1 SubmittersRCV000562700

NM_024675.4(PALB2):c.505C>G (p.Leu169Val) SNV
Germline
Chr16:23636041 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395137027 rs_180177086

2 SubmittersRCV000575213RCV001345557

NM_024675.4(PALB2):c.349C>A (p.Pro117Thr) SNV
Germline
Chr16:23636197 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA395137687 rs_1413238389

6 SubmittersRCV000567477RCV000684939RCV003237929RCV003444602

NM_024675.4(PALB2):c.187C>G (p.Leu63Val) SNV
Germline
Chr16:23637874 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA7963829 rs_730881899

2 SubmittersRCV000575025RCV001858327

NM_024675.4(PALB2):c.90G>A (p.Lys30=) SNV
Germline
Chr16:23638088 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA494167972 rs_515726130

4 SubmittersRCV000566824RCV001444109RCV003478215

NM_024675.4(PALB2):c.48+1G>A SNV
Germline
Chr16:23641109 Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA395140998 rs_515726118

5 SubmittersRCV000561202RCV000635645RCV000708619

NM_024675.4(PALB2):c.866T>A (p.Leu289Ter) SNV
Unknown
Chr16:23635680 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395135804 rs_1555461574

2 SubmittersRCV000576557

NM_024675.4(PALB2):c.1538C>T (p.Thr513Ile) SNV
Germline
Chr16:23635008 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7963699 rs_778890869

5 SubmittersRCV000580586RCV000635783RCV001030236

NM_024675.4(PALB2):c.3379T>C (p.Cys1127Arg) SNV
Germline
Chr16:23603641 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Ovarian cancer
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Hereditary breast ovarian cancer syndrome
Criteria Provided
Conflicting Classifications
CA7963346 rs_767830005

11 SubmittersRCV000579960RCV000701458RCV001030414RCV003153752RCV005019004RCV005367434

NM_024675.4(PALB2):c.1684+11A>G SNV
Germline
Chr16:23634851 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA7963684 rs_201368043

3 SubmittersRCV000580824RCV001121720RCV001860051

NM_024675.4(PALB2):c.109-12T>A SNV
Germline
Chr16:23637964 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
PALB2-related cancer predisposition
Fanconi anemia complementation group N
Criteria Provided
Multiple Submitters
No Conflicts
CA7963843 rs_774949203

8 SubmittersRCV000579887RCV000794723RCV001030120RCV005357727RCV003133384

NM_024675.4(PALB2):c.2500C>T (p.His834Tyr) SNV
Germline
Chr16:23629654 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395123962 rs_1555460308

3 SubmittersRCV000579392RCV001853887

NM_024675.4(PALB2):c.1772C>A (p.Pro591Gln) SNV
Germline
Chr16:23630382 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA7963662 rs_761773470

4 SubmittersRCV000581038RCV000809631

NM_024675.4(PALB2):c.3067C>T (p.Gln1023Ter) SNV
Germline
Chr16:23621408 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395142961 rs_1555459386

3 SubmittersRCV000584638RCV000803999RCV001269180

NM_024675.4(PALB2):c.211+1G>A SNV
Germline
Chr16:23637849 Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Multiple Submitters
No Conflicts
CA395139005 rs_1555462026

8 SubmittersRCV000581906RCV000989582RCV002466544RCV005357759

NM_024675.4(PALB2):c.3166C>T (p.Gln1056Ter) SNV
Germline
Chr16:23614039 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Gastric cancer
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA279530832 rs_1021662947

7 SubmittersRCV000581301RCV001038568RCV003159983RCV005256644

NM_024675.4(PALB2):c.2996+14T>G SNV
Germline
Chr16:23622955 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Familial cancer of breast
PALB2-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA621661650 rs_1407045774

4 SubmittersRCV000583916RCV001116751RCV002061896RCV005357760

NM_024675.4(PALB2):c.1227T>C (p.Tyr409=) SNV
Germline
Chr16:23635319 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA494461670 rs_1555461386

8 SubmittersRCV000581501RCV000600139RCV000759892RCV001451262

NM_024675.4(PALB2):c.1148T>C (p.Leu383Pro) SNV
Germline
Chr16:23635398 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome Criteria Provided
Conflicting Classifications
CA395133557 rs_1555461432

2 SubmittersRCV000584423

NM_024675.4(PALB2):c.3350+2C>G SNV
Germline
Chr16:23607862 Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395139182 rs_1555458171

5 SubmittersRCV000582943RCV001361268

NM_024675.4(PALB2):c.3113+17G>T SNV
Germline
Chr16:23621345 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA621356238 rs_1451806881

4 SubmittersRCV000581411RCV000609993RCV001853933

NM_024675.4(PALB2):c.2515-7T>G SNV
Germline
Chr16:23629282 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA658683922 rs_1555460231

3 SubmittersRCV000582208RCV002530804

NM_024675.4(PALB2):c.-10C>T SNV
Germline
Chr16:23641167 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
PALB2-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA279505441 rs_1038099508

6 SubmittersRCV000583508RCV001712601RCV005357758

NM_024675.4(PALB2):c.1301A>C (p.Asp434Ala) SNV
Germline
Chr16:23635245 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA7963721 rs_757972600

3 SubmittersRCV000581417RCV001345251

NM_024675.4(PALB2):c.303T>G (p.Asp101Glu) SNV
Germline
Chr16:23636243 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA395138797 rs_1417779335

5 SubmittersRCV000583166RCV001800806RCV003133386RCV005019008

NM_024675.4(PALB2):c.2749-1G>T SNV
Germline
Chr16:23624095 Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA16609292 rs_1060502804

4 SubmittersRCV000581632RCV000824261

NM_024675.4(PALB2):c.2673C>A (p.Cys891Ter) SNV
Germline
Chr16:23626311 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395122040 rs_78179744

5 SubmittersRCV000582849RCV002529275

NM_024675.4(PALB2):c.2464C>T (p.Gln822Ter) SNV
Germline
Chr16:23629690 Pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395124102 rs_1555460323

5 SubmittersRCV000581596RCV002268211RCV003451307

NM_024675.4(PALB2):c.2437A>C (p.Ile813Leu) SNV
Germline
Chr16:23629717 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7963574 rs_766396469

4 SubmittersRCV000584188RCV000699252RCV001567582

NM_024675.4(PALB2):c.1940A>T (p.His647Leu) SNV
Germline
Chr16:23630214 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA395127436 rs_1055533509

5 SubmittersRCV000582747RCV000695699RCV001755976RCV002282244

NM_024675.4(PALB2):c.1685-7T>G SNV
Germline
Chr16:23630476 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Criteria Provided
Conflicting Classifications
CA658683933 rs_1555460705

5 SubmittersRCV000582581RCV000663169RCV004767419

NM_024675.4(PALB2):c.1597A>G (p.Thr533Ala) SNV
Germline
Chr16:23634949 Conflicting classifications of pathogenicity Breast carcinoma
Familial cancer of breast
Malignant tumor of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395130540 rs_1393117824

6 SubmittersRCV000626962RCV000815815RCV001356890RCV003478331RCV001012327

NM_024675.4(PALB2):c.3523C>T (p.Gln1175Ter) SNV
Germline
Chr16:23603497 Pathogenic Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395137833 rs_1555457841

5 SubmittersRCV000635687RCV001702535RCV002334080

NM_024675.4(PALB2):c.2834+5G>A SNV
Germline
Chr16:23624004 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA7963478 rs_570455216

5 SubmittersRCV000635658RCV001016729RCV004723006

NM_024675.4(PALB2):c.2694G>A (p.Trp898Ter) SNV
Germline
Chr16:23626290 Pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA395121972 rs_1555459949

2 SubmittersRCV000635736

NM_024675.4(PALB2):c.2650G>T (p.Glu884Ter) SNV
Germline
Chr16:23626334 Pathogenic Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 5
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA395122125 rs_1304351755

7 SubmittersRCV000635848RCV005416117RCV000760341

NM_024675.4(PALB2):c.2345C>A (p.Pro782Gln) SNV
Germline
Chr16:23629809 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA7963590 rs_772095244

3 SubmittersRCV000635803RCV002424398

NM_024675.4(PALB2):c.3494C>A (p.Ser1165Ter) SNV
Germline
Chr16:23603526 Pathogenic/Likely pathogenic Breast and/or ovarian cancer
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395137923 rs_773829275

5 SubmittersRCV001270994RCV000635924RCV003303005

NM_024675.4(PALB2):c.2989G>T (p.Asp997Tyr) SNV
Germline
Chr16:23622976 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA395143864 rs_1555459513

6 SubmittersRCV000776383RCV000635883RCV001192766RCV004721509

NM_024675.4(PALB2):c.157G>A (p.Glu53Lys) SNV
Germline
Chr16:23637904 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395139231 rs_1184603042

5 SubmittersRCV000635779RCV000709389

NM_024675.4(PALB2):c.2748+8G>A SNV
Germline
Chr16:23626228 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA621661861 rs_1188895680

4 SubmittersRCV000636047RCV001182085RCV005357839

NM_024675.4(PALB2):c.2587-7G>A SNV
Germline
Chr16:23626404 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA279489186 rs_932395531

4 SubmittersRCV000635604RCV003584684RCV001558518

NM_024675.4(PALB2):c.1984A>T (p.Lys662Ter) SNV
Germline
Chr16:23630170 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395127256 rs_1555460533

4 SubmittersRCV000635787RCV001190673

NM_024675.4(PALB2):c.1685-3T>C SNV
Germline
Chr16:23630472 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA658798577 rs_1254059410

5 SubmittersRCV000635992RCV003128674RCV002404773

NM_024675.4(PALB2):c.1448C>A (p.Ser483Ter) SNV
Germline
Chr16:23635098 Pathogenic Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395131234 rs_1057520736

4 SubmittersRCV000635841RCV001591416RCV002388041

NM_024675.4(PALB2):c.932A>G (p.Lys311Arg) SNV
Germline
Chr16:23635614 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA7963744 rs_755129205

5 SubmittersRCV000635946RCV001030189RCV001019174RCV001194138

NM_024675.4(PALB2):c.2267G>A (p.Cys756Tyr) SNV
Germline
Chr16:23629887 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA279492499 rs_925044785

8 SubmittersRCV000635807RCV001014983RCV001030292RCV003133422

NM_024675.4(PALB2):c.926T>G (p.Ile309Arg) SNV
Germline
Chr16:23635620 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA279499141 rs_201588519

3 SubmittersRCV000635796RCV001189067

NM_024675.4(PALB2):c.846A>T (p.Arg282Ser) SNV
Germline
Chr16:23635700 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395135882 rs_1555461587

3 SubmittersRCV000635901RCV002448970

NM_024675.4(PALB2):c.2968G>C (p.Glu990Gln) SNV
Germline
Chr16:23622997 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395143969 rs_876659036

3 SubmittersRCV000635602RCV001796150RCV002438681

NM_024675.4(PALB2):c.2869A>T (p.Lys957Ter) SNV
Germline
Chr16:23623096 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395144397 rs_515726103

1 SubmittersRCV000635650

NM_024675.4(PALB2):c.1607T>C (p.Leu536Pro) SNV
Germline
Chr16:23634939 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395130490 rs_1555461198

3 SubmittersRCV000635825RCV003233767RCV004649235

NM_024675.4(PALB2):c.109-5T>C SNV
Germline
Chr16:23637957 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7963841 rs_749299119

7 SubmittersRCV001030121RCV001017270RCV001706691

NM_024675.4(PALB2):c.3441T>A (p.Cys1147Ter) SNV
Germline
Chr16:23603579 Pathogenic/Likely pathogenic Familial cancer of breast
Condition: not provided
Malignant tumor of breast
PALB2-related disorder
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Multiple Submitters
No Conflicts
CA395138136 rs_1555457867

10 SubmittersRCV001213219RCV000657758RCV004526734RCV004740390RCV002458171RCV005019096

NM_024675.4(PALB2):c.3425T>A (p.Leu1142Ter) SNV
Germline
Chr16:23603595 Pathogenic Condition: not provided
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395138197 rs_1555457878

2 SubmittersRCV000657760RCV001234062

NM_024675.4(PALB2):c.1288C>T (p.Gln430Ter) SNV
Germline
Chr16:23635258 Pathogenic Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395132531 rs_1555461358

5 SubmittersRCV000657764RCV000662965RCV002386129

NM_024675.4(PALB2):c.475G>T (p.Glu159Ter) SNV
Germline
Chr16:23636071 Pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA395137122 rs_1555461788

3 SubmittersRCV000662619

NM_024675.4(PALB2):c.212-2A>T SNV
Unknown
Chr16:23636336 Likely pathogenic Familial cancer of breast No Assertion Criteria Provided
CA395139000 rs_730881879

1 SubmittersRCV000662995

NM_024675.4(PALB2):c.778C>T (p.Gln260Ter) SNV
Germline
Chr16:23635768 Pathogenic Neuroendocrine tumor of pancreas
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395136081 rs_1555461627

5 SubmittersRCV000677896RCV003453394RCV002406519

NM_024675.4(PALB2):c.2515-11T>C SNV
Germline
Chr16:23629286 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA7963546 rs_780521904

6 SubmittersRCV000679764RCV000771301RCV002066995

NM_024675.4(PALB2):c.1991T>G (p.Met664Arg) SNV
Germline
Chr16:23630163 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395127223 rs_945657254

3 SubmittersRCV001013949RCV000679762RCV000801768

NM_024675.4(PALB2):c.3340C>T (p.Gln1114Ter) SNV
Germline
Chr16:23607874 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395139278 rs_1567206756

5 SubmittersRCV000700359RCV000708618

NM_024675.4(PALB2):c.3262C>T (p.Pro1088Ser) SNV
Germline
Chr16:23607952 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395139751 rs_1060502777

2 SubmittersRCV000691622RCV001019527

NM_024675.4(PALB2):c.2540C>G (p.Ser847Cys) SNV
Germline
Chr16:23629250 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA395123812 rs_1567216902

4 SubmittersRCV000686106RCV001015881RCV002485597

NM_024675.4(PALB2):c.97G>C (p.Ala33Pro) SNV
Germline
Chr16:23638081 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Criteria Provided
Conflicting Classifications
CA395139652 rs_747302288

2 SubmittersRCV000689943RCV003483707

NM_024675.4(PALB2):c.3350+6T>C SNV
Germline
Chr16:23607858 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA891843570 rs_1567206733

1 SubmittersRCV000704793

NM_024675.4(PALB2):c.2515-1G>A SNV
Germline
Chr16:23629276 Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Pancreatic cancer, susceptibility to, 3
Breast cancer, susceptibility to
Criteria Provided
Multiple Submitters
No Conflicts
CA395123879 rs_587776417

5 SubmittersRCV000707120RCV001015744RCV001258101

NM_024675.4(PALB2):c.1150G>A (p.Glu384Lys) SNV
Germline
Chr16:23635396 Conflicting classifications of pathogenicity Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395133552 rs_1567221497

4 SubmittersRCV000693232RCV002493183RCV001181141

NM_024675.4(PALB2):c.938G>A (p.Gly313Asp) SNV
Germline
Chr16:23635608 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395135187 rs_1555461531

2 SubmittersRCV000704478RCV005463103

NM_024675.4(PALB2):c.113C>T (p.Ala38Val) SNV
Germline
Chr16:23637948 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ovarian cancer
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA7963837 rs_371875379

5 SubmittersRCV000694173RCV000774648RCV003153807RCV002477574

NM_024675.4(PALB2):c.3037A>G (p.Ile1013Val) SNV
Germline
Chr16:23621438 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395143060 rs_1567212950

4 SubmittersRCV000695855RCV001030369RCV002507213RCV003362904

NM_024675.4(PALB2):c.2698G>C (p.Ala900Pro) SNV
Germline
Chr16:23626286 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA395121953 rs_1555459946

4 SubmittersRCV000691295RCV001016341RCV001729686

NM_024675.4(PALB2):c.2273C>T (p.Pro758Leu) SNV
Germline
Chr16:23629881 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA7963603 rs_746117401

6 SubmittersRCV000700574RCV001284196RCV002442498RCV004527749

NM_024675.4(PALB2):c.1006A>C (p.Asn336His) SNV
Germline
Chr16:23635540 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA395134551 rs_1060502774

5 SubmittersRCV000701789RCV000985881RCV002422574RCV003479202

NM_024675.4(PALB2):c.3342G>C (p.Gln1114His) SNV
Germline
Chr16:23607872 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395139263 rs_1567206753

3 SubmittersRCV000707157RCV000776589

NM_024675.4(PALB2):c.2645G>T (p.Cys882Phe) SNV
Germline
Chr16:23626339 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395122138 rs_45486906

3 SubmittersRCV000704896RCV001184091

NM_024675.4(PALB2):c.2813A>G (p.Asn938Ser) SNV
Germline
Chr16:23624030 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA395144893 rs_1567214357

5 SubmittersRCV000708729RCV000802486RCV002298749

NM_024675.4(PALB2):c.1152A>G (p.Glu384=) SNV
Germline
Chr16:23635394 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA494461920 rs_1567221490

3 SubmittersRCV000708727RCV005422950

NM_024675.4(PALB2):c.868G>T (p.Glu290Ter) SNV
Germline
Chr16:23635678 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395135793 rs_1567222143

4 SubmittersRCV000708621RCV000794070

NM_024675.4(PALB2):c.49-1G>A SNV
Germline
Chr16:23638130 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395140039 rs_1440838364

4 SubmittersRCV000708620RCV005092051

NM_024675.4(PALB2):c.2587-1G>C SNV
Germline
Chr16:23626398 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA7963519 rs_761214886

7 SubmittersRCV000709380RCV000989555RCV001759427RCV005357957

NM_024675.4(PALB2):c.50T>G (p.Leu17Ter) SNV
Germline
Chr16:23638128 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395140021 rs_1567224232

4 SubmittersRCV000709390RCV000989583

NM_024675.4(PALB2):c.2192T>G (p.Leu731Ter) SNV
Germline
Chr16:23629962 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA395125606 rs_1567217898

6 SubmittersRCV000755035RCV001855858RCV001354086

NM_024675.4(PALB2):c.1919C>G (p.Ser640Ter) SNV
Germline
Chr16:23630235 Pathogenic Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395127515 rs_760094988

5 SubmittersRCV000756460RCV003453539RCV002406678

NM_024675.4(PALB2):c.1941T>C (p.His647=) SNV
Germline
Chr16:23630213 Conflicting classifications of pathogenicity Condition: not provided
not specified
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA7963643 rs_745467835

5 SubmittersRCV000759182RCV000781683RCV001080752RCV002406684

NM_024675.4(PALB2):c.1673T>C (p.Ile558Thr) SNV
Germline
Chr16:23634873 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA7963686 rs_766583287

4 SubmittersRCV000759897RCV001340380RCV003166013

NM_024675.4(PALB2):c.1046A>C (p.Asn349Thr) SNV
Germline
Chr16:23635500 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395134191 rs_1567221740

3 SubmittersRCV000759891RCV000806524RCV003279043

NM_024675.4(PALB2):c.613G>T (p.Glu205Ter) SNV
Germline
Chr16:23635933 Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
CA395136640 rs_1567222636

2 SubmittersRCV000759192

NM_024675.4(PALB2):c.379C>T (p.His127Tyr) SNV
Germline
Chr16:23636167 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA279500141 rs_1056494105

4 SubmittersRCV000759189RCV001021174RCV002533132

NM_024675.4(PALB2):c.48+10G>A SNV
Germline
Chr16:23641100 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
PALB2-related cancer predisposition
Criteria Provided
Conflicting Classifications
CA913190540 rs_1311681895

4 SubmittersRCV000759190RCV001472512RCV005367536

NM_024675.4(PALB2):c.2866G>T (p.Glu956Ter) SNV
Germline
Chr16:23623099 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395144411 rs_1219715328

4 SubmittersRCV000772898RCV001388158

NM_024675.4(PALB2):c.2522C>T (p.Thr841Ile) SNV
Germline
Chr16:23629268 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395123851 rs_1373085553

3 SubmittersRCV000773403RCV003768340

NM_024675.4(PALB2):c.2336C>T (p.Ser779Leu) SNV
Germline
Chr16:23629818 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA395124994 rs_764509489

4 SubmittersRCV000773204RCV000819396RCV002507340

NM_024675.4(PALB2):c.1997C>T (p.Thr666Ile) SNV
Germline
Chr16:23630157 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA395127183 rs_1567218311

5 SubmittersRCV000777409RCV001869122RCV002477779RCV005358024

NM_024675.4(PALB2):c.1878A>G (p.Lys626=) SNV
Germline
Chr16:23630276 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA494461216 rs_1567218624

3 SubmittersRCV000774266RCV001468975

NM_024675.4(PALB2):c.1673T>G (p.Ile558Ser) SNV
Germline
Chr16:23634873 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome Criteria Provided
Conflicting Classifications
CA395129930 rs_766583287

2 SubmittersRCV000774306

NM_024675.4(PALB2):c.1536C>A (p.Tyr512Ter) SNV
Germline
Chr16:23635010 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA395130912 rs_1567220802

5 SubmittersRCV000820180RCV000773666RCV001030234

NM_024675.4(PALB2):c.1430C>A (p.Thr477Asn) SNV
Germline
Chr16:23635116 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395131289 rs_1567221020

3 SubmittersRCV000771646RCV000817099

NM_024675.4(PALB2):c.1376A>G (p.Asp459Gly) SNV
Germline
Chr16:23635170 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA279498431 rs_1031787378

4 SubmittersRCV000776558RCV001030219

NM_024675.4(PALB2):c.352A>G (p.Ile118Val) SNV
Germline
Chr16:23636194 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395137667 rs_1567223015

3 SubmittersRCV000772634RCV001064113

NM_024675.4(PALB2):c.341G>A (p.Gly114Glu) SNV
Germline
Chr16:23636205 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395137738 rs_1567223045

3 SubmittersRCV000774983RCV003607351

NM_024675.4(PALB2):c.289T>C (p.Ser97Pro) SNV
Germline
Chr16:23636257 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA395138822 rs_1456296764

4 SubmittersRCV000775252RCV001344073RCV003166052

NM_024675.4(PALB2):c.73A>T (p.Lys25Ter) SNV
Germline
Chr16:23638105 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395139806 rs_1248579792

6 SubmittersRCV000772890RCV001030115RCV003155956

NM_024675.4(PALB2):c.22C>A (p.Pro8Thr) SNV
Germline
Chr16:23641136 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA395141153 rs_876660586

4 SubmittersRCV000773884RCV001209051RCV005367544

NM_024675.4(PALB2):c.2515-14T>A SNV
Germline
Chr16:23629289 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA7963547 rs_752108348

3 SubmittersRCV000774629RCV002061094

NM_024675.4(PALB2):c.1685-1G>A SNV
Germline
Chr16:23630470 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395128493 rs_1057520645

3 SubmittersRCV000773053RCV001064056

NM_024675.4(PALB2):c.3201+4A>G SNV
Germline
Chr16:23614000 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA621354618 rs_1226634357

3 SubmittersRCV000774968RCV001304942

NM_024675.4(PALB2):c.2587-9T>C SNV
Germline
Chr16:23626406 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA494161343 rs_1567215613

4 SubmittersRCV000777528RCV001050389RCV003478478

NM_024675.4(PALB2):c.1685-10T>C SNV
Germline
Chr16:23630479 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary cancer
Criteria Provided
Conflicting Classifications
CA913188779 rs_1567219034

4 SubmittersRCV000774865RCV001491198RCV005231318

NM_024675.4(PALB2):c.3201+5G>T SNV
Germline
Chr16:23613999 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
CA915949160 rs_1597073208

1 SubmittersRCV000845286

NM_024675.4(PALB2):c.2759T>G (p.Leu920Ter) SNV
Germline
Chr16:23624084 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395145235 rs_1567214493

4 SubmittersRCV000780562RCV002440616

NM_024675.4(PALB2):c.2616G>T (p.Val872=) SNV
Germline
Chr16:23626368 Conflicting classifications of pathogenicity not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA494161299 rs_1567215519

6 SubmittersRCV000780565RCV000878247RCV002440617RCV001078566

NM_024675.4(PALB2):c.2012T>G (p.Leu671Ter) SNV
Germline
Chr16:23630142 Pathogenic/Likely pathogenic Familial cancer of breast
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA7963637 rs_755263466

7 SubmittersRCV000780570RCV001355597RCV002422668RCV003155957

NM_024675.4(PALB2):c.1121T>C (p.Ile374Thr) SNV
Germline
Chr16:23635425 Conflicting classifications of pathogenicity not specified
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395133702 rs_1567221558

4 SubmittersRCV000781685RCV000794017RCV001009887

NM_024675.4(PALB2):c.761C>G (p.Ser254Ter) SNV
Germline
Chr16:23635785 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Uterine corpus cancer
Criteria Provided
Multiple Submitters
No Conflicts
CA395136152 rs_864622695

4 SubmittersRCV000780563RCV001026625RCV003128160

NC_000016.10:g.23626399T>C SNV
Germline
Chr16:23626399 Conflicting classifications of pathogenicity Familial cancer of breast Criteria Provided
Conflicting Classifications
CA395122290 rs_1060502787

2 SubmittersRCV002026378

NM_024675.4(PALB2):c.2514+2T>C SNV
Germline
Chr16:23629638 Pathogenic Condition: not provided No Assertion Criteria Provided
CA395123908 rs_1343145658

2 SubmittersRCV000786800

NM_024675.4(PALB2):c.2768T>G (p.Val923Gly) SNV
Germline
Chr16:23624075 Conflicting classifications of pathogenicity Familial cancer of breast Criteria Provided
Conflicting Classifications
CA395145174 rs_1597082876

2 SubmittersRCV000993768

NM_024675.4(PALB2):c.3477G>A (p.Trp1159Ter) SNV
Germline
Chr16:23603543 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395137993 rs_1597061983

3 SubmittersRCV000811935RCV004028753

NM_024675.4(PALB2):c.3277A>G (p.Ile1093Val) SNV
Germline
Chr16:23607937 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395139636 rs_1597066812

3 SubmittersRCV000792136RCV004027409

NM_024675.4(PALB2):c.2942G>A (p.Ser981Asn) SNV
Germline
Chr16:23623023 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395144102 rs_1597081224

2 SubmittersRCV000805772RCV005401618

NM_024675.4(PALB2):c.2773G>A (p.Val925Met) SNV
Germline
Chr16:23624070 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395145141 rs_180177125

2 SubmittersRCV000807391RCV004028613

NM_024675.4(PALB2):c.2749G>A (p.Val917Ile) SNV
Germline
Chr16:23624094 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
PALB2-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA395145267 rs_753767237

4 SubmittersRCV000815988RCV001016480RCV004545803RCV005251230

NM_024675.4(PALB2):c.2566C>T (p.Gln856Ter) SNV
Germline
Chr16:23629224 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA7963540 rs_770996884

6 SubmittersRCV000816115RCV001015972

NM_024675.4(PALB2):c.2422G>T (p.Gly808Ter) SNV
Germline
Chr16:23629732 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395124318 rs_1064795507

1 SubmittersRCV000804000

NM_024675.4(PALB2):c.2329G>T (p.Asp777Tyr) SNV
Germline
Chr16:23629825 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395125061 rs_148026749

2 SubmittersRCV000811967RCV001015206

NM_024675.4(PALB2):c.2218C>G (p.Gln740Glu) SNV
Germline
Chr16:23629936 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395125557 rs_1555460445

3 SubmittersRCV000813235RCV001805889

NM_024675.4(PALB2):c.1781G>A (p.Arg594Lys) SNV
Germline
Chr16:23630373 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395128146 rs_1597091217

3 SubmittersRCV000794250RCV001524353

NM_024675.4(PALB2):c.1779T>C (p.His593=) SNV
Germline
Chr16:23630375 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA494461386 rs_1475548158

3 SubmittersRCV000808278RCV001013149

NM_024675.4(PALB2):c.1647C>G (p.His549Gln) SNV
Germline
Chr16:23634899 Conflicting classifications of pathogenicity Familial cancer of breast Criteria Provided
Conflicting Classifications
CA395130140 rs_747842085

2 SubmittersRCV000812545

NM_024675.4(PALB2):c.1522C>T (p.Pro508Ser) SNV
Germline
Chr16:23635024 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395130967 rs_1597095773

2 SubmittersRCV000808247RCV001012001

NM_024675.4(PALB2):c.1432T>C (p.Ser478Pro) SNV
Germline
Chr16:23635114 Conflicting classifications of pathogenicity Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395131285 rs_1597096071

3 SubmittersRCV000796364RCV002249510RCV002388440

NM_024675.4(PALB2):c.1129C>T (p.Gln377Ter) SNV
Germline
Chr16:23635417 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA279498785 rs_929474806

5 SubmittersRCV002325498RCV000792959

NM_024675.4(PALB2):c.1010T>A (p.Leu337Ter) SNV
Germline
Chr16:23635536 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395134478 rs_45494092

2 SubmittersRCV000794532RCV004027491

NM_024675.4(PALB2):c.512T>A (p.Leu171Ter) SNV
Germline
Chr16:23636034 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395137012 rs_876658979

2 SubmittersRCV000798117RCV004944161

NM_024675.4(PALB2):c.254A>G (p.Lys85Arg) SNV
Germline
Chr16:23636292 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395138897 rs_1597099769

3 SubmittersRCV001030139RCV004944140RCV000791662

NM_024675.4(PALB2):c.212-2A>C SNV
Germline
Chr16:23636336 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395138999 rs_730881879

6 SubmittersRCV000793896RCV001268209RCV002422689

NM_024675.4(PALB2):c.3113+5G>A SNV
Germline
Chr16:23621357 Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA915949162 rs_876659463

3 SubmittersRCV000821488RCV002319908RCV005231391

NM_024675.4(PALB2):c.211+1G>T SNV
Germline
Chr16:23637849 Pathogenic/Likely pathogenic Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395139004 rs_1555462026

8 SubmittersRCV000806217RCV001291546RCV004944181RCV005092410

NM_024675.4(PALB2):c.-1G>C SNV
Germline
Chr16:23641158 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA915949148 rs_1341292125

3 SubmittersRCV000827093RCV004029200RCV005432454

NM_024675.4(PALB2):c.2202T>C (p.Thr734=) SNV
Germline
Chr16:23629952 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA494461110 rs_1278216949

4 SubmittersRCV001499662RCV003478554RCV002427183

NM_024675.4(PALB2):c.1621A>C (p.Arg541=) SNV
Germline
Chr16:23634925 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA494461352 rs_1597095457

5 SubmittersRCV001407327RCV001805944RCV000966551

NM_024675.4(PALB2):c.1919C>T (p.Ser640Leu) SNV
Germline
Chr16:23630235 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395127513 rs_760094988

4 SubmittersRCV000985888RCV003473528RCV004030102

NM_024675.4(PALB2):c.1566A>G (p.Pro522=) SNV
Germline
Chr16:23634980 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA494461275 rs_1597095620

5 SubmittersRCV000985886RCV001186186RCV001495441

NM_024675.4(PALB2):c.1917G>T (p.Glu639Asp) SNV
Germline
Chr16:23630237 Conflicting classifications of pathogenicity Familial cancer of breast Criteria Provided
Conflicting Classifications
CA395127520 rs_1597090787

2 SubmittersRCV000989564

NM_024675.4(PALB2):c.3469C>T (p.Gln1157Ter) SNV
Germline
Chr16:23603551 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Malignant tumor of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395138028 rs_1597062038

7 SubmittersRCV001020375RCV001860983RCV003226417

NM_024675.4(PALB2):c.3460G>A (p.Val1154Ile) SNV
Germline
Chr16:23603560 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395138067 rs_1597062059

2 SubmittersRCV001020361RCV005093195

NM_024675.4(PALB2):c.3415A>G (p.Ile1139Val) SNV
Germline
Chr16:23603605 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial ovarian cancer
Familial cancer of breast
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA395138220 rs_1249960937

6 SubmittersRCV001020240RCV001356031RCV001361922RCV004588497RCV004702583

NM_024675.4(PALB2):c.3395T>A (p.Leu1132Ter) SNV
Germline
Chr16:23603625 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395138260 rs_1597062296

3 SubmittersRCV001020185RCV003455110

NM_024675.4(PALB2):c.2824A>T (p.Arg942Ter) SNV
Germline
Chr16:23624019 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
CA395144821 rs_757055720

1 SubmittersRCV001016698

NM_024675.4(PALB2):c.2736G>A (p.Trp912Ter) SNV
Germline
Chr16:23626248 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA395121841 rs_1555459925

5 SubmittersRCV001016442RCV001234330RCV005232052

NM_024675.4(PALB2):c.2389C>T (p.Gln797Ter) SNV
Germline
Chr16:23629765 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395124573 rs_1060502768

5 SubmittersRCV001015370RCV002549416

NM_024675.4(PALB2):c.2123T>A (p.Leu708Ter) SNV
Germline
Chr16:23630031 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395125753 rs_1597090059

2 SubmittersRCV001014530RCV003455085

NM_024675.4(PALB2):c.2099C>G (p.Ser700Ter) SNV
Germline
Chr16:23630055 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
CA395125797 rs_1597090146

1 SubmittersRCV001014427

NM_024675.4(PALB2):c.2078A>T (p.His693Leu) SNV
Germline
Chr16:23630076 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA395126578 rs_587780208

3 SubmittersRCV001014348RCV001047310RCV003478620

NM_024675.4(PALB2):c.1915G>T (p.Glu639Ter) SNV
Germline
Chr16:23630239 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395127528 rs_1555460592

2 SubmittersRCV001013686RCV003455079

NM_024675.4(PALB2):c.1882A>T (p.Lys628Ter) SNV
Germline
Chr16:23630272 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395127646 rs_1597090894

2 SubmittersRCV001013510RCV001380164

NM_024675.4(PALB2):c.1653T>G (p.Tyr551Ter) SNV
Germline
Chr16:23634893 Pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395130088 rs_118203997

4 SubmittersRCV001012602RCV001284026RCV001860714

NM_024675.4(PALB2):c.1643C>G (p.Ser548Ter) SNV
Germline
Chr16:23634903 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395130162 rs_1241049372

3 SubmittersRCV001012547RCV001047370

NM_024675.4(PALB2):c.1622G>A (p.Arg541Lys) SNV
Germline
Chr16:23634924 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395130342 rs_1597095450

3 SubmittersRCV001012445RCV001358872

NM_024675.4(PALB2):c.1586C>T (p.Pro529Leu) SNV
Germline
Chr16:23634960 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395130604 rs_1597095559

2 SubmittersRCV001012296RCV001323085

NM_024675.4(PALB2):c.1451T>G (p.Leu484Ter) SNV
Germline
Chr16:23635095 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395131225 rs_786203714

2 SubmittersRCV001011656RCV001030651

NM_024675.4(PALB2):c.1384G>T (p.Glu462Ter) SNV
Germline
Chr16:23635162 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Gastric cancer
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA395131383 rs_1597096243

4 SubmittersRCV001030652RCV001011273RCV003160174RCV001030221

NM_024675.4(PALB2):c.1163C>T (p.Pro388Leu) SNV
Germline
Chr16:23635383 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395133468 rs_1597096898

2 SubmittersRCV001010064RCV001232223

NM_024675.4(PALB2):c.1117G>T (p.Glu373Ter) SNV
Germline
Chr16:23635429 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395133728 rs_1597097072

3 SubmittersRCV001017382RCV001383301

NM_024675.4(PALB2):c.1010T>G (p.Leu337Ter) SNV
Germline
Chr16:23635536 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Malignant tumor of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA16622082 rs_45494092

4 SubmittersRCV001016993RCV001057150RCV004689957

NM_024675.4(PALB2):c.833T>A (p.Leu278Gln) SNV
Germline
Chr16:23635713 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Criteria Provided
Conflicting Classifications
CA7963755 rs_200843485

3 SubmittersRCV001017584RCV005004485

NM_024675.4(PALB2):c.809G>A (p.Ser270Asn) SNV
Germline
Chr16:23635737 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395135998 rs_1597098223

2 SubmittersRCV001027172RCV001045831

NM_024675.4(PALB2):c.712A>T (p.Arg238Ter) SNV
Germline
Chr16:23635834 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395136336 rs_779278389

3 SubmittersRCV001026070RCV001242112

NM_024675.4(PALB2):c.388C>T (p.His130Tyr) SNV
Germline
Chr16:23636158 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group N
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395137451 rs_1555461809

5 SubmittersRCV001021365RCV001030148RCV001119842RCV001861018

NM_024675.4(PALB2):c.343G>T (p.Gly115Ter) SNV
Germline
Chr16:23636203 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395137728 rs_1597099523

3 SubmittersRCV001020314RCV001070132

NM_024675.4(PALB2):c.34G>C (p.Glu12Gln) SNV
Germline
Chr16:23641124 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA7963887 rs_765520187

2 SubmittersRCV001020465RCV002551827

NM_024675.4(PALB2):c.3351-1G>C SNV
Germline
Chr16:23603670 Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395138433 rs_1597062406

2 SubmittersRCV001020063RCV003455108

NM_024675.4(PALB2):c.3202-4T>C SNV
Germline
Chr16:23608016 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA915949159 rs_1597067067

4 SubmittersRCV001019202RCV001284320RCV001411007

NM_024675.4(PALB2):c.3113+1G>A SNV
Germline
Chr16:23621361 Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395142752 rs_1597079557

3 SubmittersRCV001018702RCV002550843

NM_024675.4(PALB2):c.2997-1G>A SNV
Germline
Chr16:23621479 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA7963447 rs_754465466

4 SubmittersRCV001017865RCV003455099

NM_024675.4(PALB2):c.2834+2T>C SNV
Germline
Chr16:23624007 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Gastric cancer
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395144743 rs_864622481

7 SubmittersRCV001016727RCV001030347RCV003160177RCV005236531RCV005401689RCV001860839

NM_024675.4(PALB2):c.212-5C>T SNV
Germline
Chr16:23636339 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA915949138 rs_1597099922

2 SubmittersRCV001014540RCV005423766

NM_024675.4(PALB2):c.109-2A>C SNV
Germline
Chr16:23637954 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
CA395139505 rs_730881897

1 SubmittersRCV001017254

NM_024675.4(PALB2):c.2242A>G (p.Thr748Ala) SNV
Germline
Chr16:23629912 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395125498 rs_1279823900

3 SubmittersRCV001030290RCV002427473RCV005093298

NM_024675.4(PALB2):c.2083A>T (p.Lys695Ter) SNV
Germline
Chr16:23630071 Pathogenic Condition: not provided
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395125847 rs_1567218141

3 SubmittersRCV001030276RCV003455145

NM_024675.4(PALB2):c.1972G>T (p.Glu658Ter) SNV
Germline
Chr16:23630182 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395127308 rs_1555460542

4 SubmittersRCV001030273RCV004030912

NM_024675.4(PALB2):c.1907A>G (p.Glu636Gly) SNV
Germline
Chr16:23630247 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395127557 rs_1966863975

3 SubmittersRCV001030267RCV004030911RCV003607397

NM_024675.4(PALB2):c.1837C>T (p.Gln613Ter) SNV
Germline
Chr16:23630317 Pathogenic Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 5
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395127879 rs_1966865214

6 SubmittersRCV001030263RCV003455144RCV004577541RCV003584801

NM_024675.4(PALB2):c.1786G>T (p.Gly596Ter) SNV
Germline
Chr16:23630368 Pathogenic Familial cancer of breast
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA395128111 rs_1966866081

4 SubmittersRCV001030260RCV004702588

NM_024675.4(PALB2):c.1411G>C (p.Gly471Arg) SNV
Germline
Chr16:23635135 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395131328 rs_1966970790

3 SubmittersRCV001030224RCV004659289RCV003607396

NM_024675.4(PALB2):c.812G>A (p.Ser271Asn) SNV
Germline
Chr16:23635734 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395135989 rs_1167051191

4 SubmittersRCV001030177RCV002416312RCV003607394

NM_024675.4(PALB2):c.746C>T (p.Pro249Leu) SNV
Germline
Chr16:23635800 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA7963764 rs_759810283

4 SubmittersRCV001030171RCV002391085

NM_024675.4(PALB2):c.538G>T (p.Glu180Ter) SNV
Germline
Chr16:23636008 Pathogenic Condition: not provided
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395136914 rs_750782778

3 SubmittersRCV001030156RCV003607393

NM_024675.4(PALB2):c.227T>C (p.Ile76Thr) SNV
Germline
Chr16:23636319 Conflicting classifications of pathogenicity Carcinoma of colon
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395138956 rs_1967061407

3 SubmittersRCV001030135RCV001862432RCV004030909

NM_024675.4(PALB2):c.3161C>T (p.Ser1054Phe) SNV
Germline
Chr16:23614044 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395141281 rs_1227213725

2 SubmittersRCV001045819RCV002320261

NM_024675.4(PALB2):c.3028G>T (p.Glu1010Ter) SNV
Germline
Chr16:23621447 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395143098 rs_1966771907

3 SubmittersRCV001064157RCV002436654

NM_024675.4(PALB2):c.2485C>T (p.Gln829Ter) SNV
Germline
Chr16:23629669 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395124018 rs_1966855759

3 SubmittersRCV001048640RCV003283899

NM_024675.4(PALB2):c.1988G>A (p.Arg663His) SNV
Germline
Chr16:23630166 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA395127231 rs_1462734899

3 SubmittersRCV001061994RCV002418525RCV003323791

NM_024675.4(PALB2):c.1568C>G (p.Ala523Gly) SNV
Germline
Chr16:23634978 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395130717 rs_1966956742

2 SubmittersRCV001071418RCV004030790

NM_024675.4(PALB2):c.1553C>A (p.Ser518Ter) SNV
Germline
Chr16:23634993 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
PALB2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA395130804 rs_1060502805

4 SubmittersRCV001044695RCV002400256RCV004740549

NM_024675.4(PALB2):c.1480A>G (p.Thr494Ala) SNV
Germline
Chr16:23635066 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary cancer
Criteria Provided
Conflicting Classifications
CA395131134 rs_1555461258

4 SubmittersRCV001051470RCV002393258RCV004702605

NM_024675.4(PALB2):c.1315G>A (p.Gly439Arg) SNV
Germline
Chr16:23635231 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA7963720 rs_764750338

2 SubmittersRCV001057203RCV004944821

NM_024675.4(PALB2):c.1002C>A (p.Tyr334Ter) SNV
Germline
Chr16:23635544 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395134596 rs_1967002667

3 SubmittersRCV001055176RCV003283917

NM_024675.4(PALB2):c.647T>C (p.Ile216Thr) SNV
Germline
Chr16:23635899 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395136523 rs_1967031858

2 SubmittersRCV001039734RCV004944785

NM_024675.4(PALB2):c.568T>A (p.Ser190Thr) SNV
Germline
Chr16:23635978 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395136806 rs_1967037502

2 SubmittersRCV001041617RCV002348354

NM_024675.4(PALB2):c.485G>C (p.Cys162Ser) SNV
Germline
Chr16:23636061 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395137099 rs_1555461779

3 SubmittersRCV001050370RCV001191985

NM_024675.4(PALB2):c.483C>G (p.Asp161Glu) SNV
Germline
Chr16:23636063 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA279499946 rs_371627753

3 SubmittersRCV001054073RCV002479328RCV002339272

NM_024675.4(PALB2):c.398G>C (p.Ser133Thr) SNV
Germline
Chr16:23636148 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Chordoma
Criteria Provided
Conflicting Classifications
CA395137415 rs_864622411

4 SubmittersRCV001038666RCV001178878RCV002267068

NM_024675.4(PALB2):c.290C>T (p.Ser97Phe) SNV
Germline
Chr16:23636256 Conflicting classifications of pathogenicity Familial cancer of breast Criteria Provided
Conflicting Classifications
CA395138819 rs_776902295

2 SubmittersRCV001048724

NM_024675.4(PALB2):c.211+2T>C SNV
Germline
Chr16:23637848 Likely pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395139002 rs_1967098495

1 SubmittersRCV001036628

NM_024675.4(PALB2):c.2514+1G>A SNV
Germline
Chr16:23629639 Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395123914 rs_886039729

4 SubmittersRCV001187628RCV001069194

NM_024675.4(PALB2):c.48+1G>T SNV
Germline
Chr16:23641109 Pathogenic/Likely pathogenic Condition: not provided
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395140996 rs_515726118

3 SubmittersRCV001091643RCV001377904

NM_024675.4(PALB2):c.3402T>A (p.Ser1134=) SNV
Germline
Chr16:23603618 Conflicting classifications of pathogenicity Fanconi anemia complementation group N
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA494173722 rs_1966403904

4 SubmittersRCV001121622RCV001526131RCV001201577

NM_024675.4(PALB2):c.*10A>T SNV
Germline
Chr16:23603449 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA913188696 rs_1966394024

2 SubmittersRCV001180161RCV005428093

NM_024675.4(PALB2):c.2872C>T (p.Gln958Ter) SNV
Germline
Chr16:23623093 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395144382 rs_1567213829

2 SubmittersRCV001386173RCV001179792

NM_024675.4(PALB2):c.2535T>C (p.Pro845=) SNV
Germline
Chr16:23629255 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA494163498 rs_1567216906

6 SubmittersRCV001181274RCV002559781RCV004596416RCV003478712

NM_024675.4(PALB2):c.2360C>G (p.Thr787Ser) SNV
Germline
Chr16:23629794 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA279492250 rs_201042302

3 SubmittersRCV001180223RCV001218280

NM_024675.4(PALB2):c.2278C>A (p.Leu760Ile) SNV
Germline
Chr16:23629876 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA7963601 rs_769634658

3 SubmittersRCV001180225RCV001244487

NM_024675.4(PALB2):c.2265C>A (p.Cys755Ter) SNV
Germline
Chr16:23629889 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
CA395125417 rs_1966858159

1 SubmittersRCV001188618

NM_024675.4(PALB2):c.1364A>T (p.Asn455Ile) SNV
Germline
Chr16:23635182 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome Criteria Provided
Conflicting Classifications
CA395131471 rs_587781824

2 SubmittersRCV001175887

NM_024675.4(PALB2):c.1352T>A (p.Leu451Ter) SNV
Germline
Chr16:23635194 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
CA395131526 rs_1966974831

1 SubmittersRCV001177020

NM_024675.4(PALB2):c.1253A>G (p.Asn418Ser) SNV
Germline
Chr16:23635293 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395132874 rs_1784498384

3 SubmittersRCV001184627RCV001300771

NM_024675.4(PALB2):c.1181A>T (p.His394Leu) SNV
Germline
Chr16:23635365 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA7963729 rs_762430363

4 SubmittersRCV001184922RCV001359927

NM_024675.4(PALB2):c.503C>G (p.Ser168Ter) SNV
Germline
Chr16:23636043 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395137032 rs_515726122

4 SubmittersRCV001187410RCV003449610

NM_024675.4(PALB2):c.236A>G (p.Tyr79Cys) SNV
Germline
Chr16:23636310 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome Criteria Provided
Conflicting Classifications
CA395138939 rs_766710382

2 SubmittersRCV001191364

NM_024675.4(PALB2):c.37G>T (p.Glu13Ter) SNV
Germline
Chr16:23641121 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395141056 rs_373287455

2 SubmittersRCV002555489RCV001178653

NM_024675.4(PALB2):c.2997-2A>T SNV
Germline
Chr16:23621480 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
CA395143249 rs_1555459421

1 SubmittersRCV001188593

NM_024675.4(PALB2):c.2749-15C>G SNV
Germline
Chr16:23624109 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA913188718 rs_1567214528

2 SubmittersRCV001188503RCV002559151

NM_024675.4(PALB2):c.212-1G>A SNV
Germline
Chr16:23636335 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395138998 rs_1597099910

4 SubmittersRCV001180262RCV001875981

NM_024675.4(PALB2):c.2997-15C>A SNV
Germline
Chr16:23621493 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA1139664575 rs_1966773679

2 SubmittersRCV001192051RCV002069179

NM_024675.4(PALB2):c.3351-10A>T SNV
Germline
Chr16:23603679 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA913188700 rs_1057517611

2 SubmittersRCV001189248RCV002560044

NM_024675.4(PALB2):c.2586+8G>T SNV
Germline
Chr16:23629196 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA913188730 rs_1060504708

3 SubmittersRCV001176656RCV005093770

NM_024675.4(PALB2):c.2514+5A>G SNV
Germline
Chr16:23629635 Conflicting classifications of pathogenicity not specified
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA1139664588 rs_1966855329

2 SubmittersRCV001192770RCV005428132

NM_024675.4(PALB2):c.2383C>G (p.Gln795Glu) SNV
Germline
Chr16:23629771 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395124613 rs_1966856854

3 SubmittersRCV001196352RCV003293986

NM_024675.4(PALB2):c.3251C>A (p.Ser1084Ter) SNV
Germline
Chr16:23607963 Likely pathogenic Malignant tumor of breast
Familial cancer of breast
Criteria Provided
Single Submitter
CA395139820 rs_62625271

2 SubmittersRCV001201230RCV003485687

NM_024675.4(PALB2):c.2749-5T>C SNV
Germline
Chr16:23624099 Conflicting classifications of pathogenicity not specified
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA494181324 rs_1966828330

2 SubmittersRCV001201202RCV005428134

NM_024675.4(PALB2):c.3425T>G (p.Leu1142Ter) SNV
Germline
Chr16:23603595 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395138193 rs_1555457878

3 SubmittersRCV001215359RCV002451471

NM_024675.4(PALB2):c.181C>T (p.Gln61Ter) SNV
Germline
Chr16:23637880 Pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA395139085 rs_1967100637

2 SubmittersRCV001202645

NM_024675.4(PALB2):c.3202-2A>G SNV
Germline
Chr16:23608014 Pathogenic/Likely pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA395140148 rs_1060499827

2 SubmittersRCV001207886

NM_024675.4(PALB2):c.2587-8T>G SNV
Germline
Chr16:23626405 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
PALB2-related cancer predisposition
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA1139664582 rs_1489345430

5 SubmittersRCV001212825RCV003584848RCV004783916RCV005359946RCV004740615

NM_024675.4(PALB2):c.2586+1G>T SNV
Germline
Chr16:23629203 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395123602 rs_1375713365

1 SubmittersRCV001221542

NM_024675.4(PALB2):c.3307G>T (p.Val1103Leu) SNV
Germline
Chr16:23607907 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395139465 rs_201657283

2 SubmittersRCV001228456RCV005384993

NM_024675.4(PALB2):c.1769C>T (p.Ala590Val) SNV
Germline
Chr16:23630385 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395128187 rs_1966866430

2 SubmittersRCV001234776RCV004659430

NM_024675.4(PALB2):c.1497G>T (p.Leu499Phe) SNV
Germline
Chr16:23635049 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395131062 rs_748315431

2 SubmittersRCV001233619RCV002393582

NM_024675.4(PALB2):c.1227T>A (p.Tyr409Ter) SNV
Germline
Chr16:23635319 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395133079 rs_1555461386

5 SubmittersRCV001229056RCV001526202

NM_024675.4(PALB2):c.1115G>A (p.Ser372Asn) SNV
Germline
Chr16:23635431 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395133748 rs_786204243

2 SubmittersRCV003365269RCV001227673

NM_024675.4(PALB2):c.1411G>A (p.Gly471Arg) SNV
Germline
Chr16:23635135 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395131327 rs_1966970790

2 SubmittersRCV001244884RCV004944949

NM_024675.4(PALB2):c.577A>G (p.Thr193Ala) SNV
Germline
Chr16:23635969 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA395136777 rs_1967037000

3 SubmittersRCV001244167RCV002357041RCV003493830

NM_024675.4(PALB2):c.2749-1G>A SNV
Germline
Chr16:23624095 Likely pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395145276 rs_1060502804

1 SubmittersRCV001238219

NM_024675.4(PALB2):c.2996+2T>C SNV
Germline
Chr16:23622967 Likely pathogenic Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395143815 rs_1966797789

4 SubmittersRCV001269178RCV001377139RCV003478760RCV005403011

NM_024675.4(PALB2):c.2878C>T (p.Leu960=) SNV
Germline
Chr16:23623087 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA494180493 rs_1966803657

2 SubmittersRCV001284199RCV002069504

NM_024675.4(PALB2):c.2136G>T (p.Ala712=) SNV
Germline
Chr16:23630018 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA494461158 rs_905951607

3 SubmittersRCV001284031RCV003584878RCV005423955

NM_024675.4(PALB2):c.108+2T>C SNV
Germline
Chr16:23638068 Likely pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395139559 rs_2142459705

1 SubmittersRCV001523835

NM_024675.4(PALB2):c.1012C>T (p.Pro338Ser) SNV
Germline
Chr16:23635534 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395134436 rs_560853558

2 SubmittersRCV002350539RCV001300197

NM_024675.4(PALB2):c.1556C>A (p.Ala519Asp) SNV
Germline
Chr16:23634990 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395130790 rs_1340452845

2 SubmittersRCV001317568RCV002402884

NM_024675.4(PALB2):c.2707G>A (p.Ala903Thr) SNV
Germline
Chr16:23626277 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395121924 rs_1324636666

2 SubmittersRCV001340061RCV002438773

NM_024675.4(PALB2):c.1745C>T (p.Ser582Phe) SNV
Germline
Chr16:23630409 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA279493666 rs_865777690

2 SubmittersRCV001350098RCV004651609

NM_024675.4(PALB2):c.1685-2A>C SNV
Germline
Chr16:23630471 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395128498 rs_754660432

2 SubmittersRCV001346019RCV002412087

NM_024675.4(PALB2):c.1307A>G (p.Lys436Arg) SNV
Germline
Chr16:23635239 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395132422 rs_1966977995

2 SubmittersRCV001342671RCV005385046

NM_024675.4(PALB2):c.1196C>T (p.Pro399Leu) SNV
Germline
Chr16:23635350 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395133260 rs_776115183

2 SubmittersRCV001352366RCV003284250

NM_024675.4(PALB2):c.923C>T (p.Ala308Val) SNV
Germline
Chr16:23635623 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395135308 rs_1967009067

2 SubmittersRCV001347591RCV004651601

NM_024675.4(PALB2):c.592C>T (p.His198Tyr) SNV
Germline
Chr16:23635954 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395136723 rs_1967036024

2 SubmittersRCV001338145RCV002357177

NM_024675.4(PALB2):c.553A>G (p.Lys185Glu) SNV
Germline
Chr16:23635993 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395136852 rs_1967038738

2 SubmittersRCV001342754RCV004945035

NM_024675.4(PALB2):c.385C>T (p.Pro129Ser) SNV
Germline
Chr16:23636161 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA395137461 rs_1174443228

3 SubmittersRCV001351434RCV004036654RCV005361554

NM_024675.4(PALB2):c.3351G>A (p.Arg1117=) SNV
Germline
Chr16:23603669 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA494173844 rs_1966406887

2 SubmittersRCV001362324RCV004036835

NM_024675.4(PALB2):c.2348C>T (p.Ala783Val) SNV
Germline
Chr16:23629806 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395124890 rs_1473991269

2 SubmittersRCV001373883RCV004037588

NM_024675.4(PALB2):c.557A>G (p.Asn186Ser) SNV
Germline
Chr16:23635989 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395136839 rs_587782164

2 SubmittersRCV001371738RCV004037514

NM_024675.4(PALB2):c.2749-2A>G SNV
Germline
Chr16:23624096 Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395145280 rs_1555459747

2 SubmittersRCV001379740RCV002438885

NM_024675.4(PALB2):c.3351-1G>A SNV
Germline
Chr16:23603670 Pathogenic/Likely pathogenic Familial cancer of breast
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Multiple Submitters
No Conflicts
CA395138431 rs_1597062406

2 SubmittersRCV001385043RCV005014535

NM_024675.4(PALB2):c.3058C>T (p.Gln1020Ter) SNV
Germline
Chr16:23621417 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395143007 rs_2142327117

3 SubmittersRCV001380135RCV002447506

NM_024675.4(PALB2):c.2631G>A (p.Trp877Ter) SNV
Germline
Chr16:23626353 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395122169 rs_2142355636

1 SubmittersRCV001387638

NM_024675.4(PALB2):c.2041A>T (p.Lys681Ter) SNV
Germline
Chr16:23630113 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395126895 rs_2142382651

1 SubmittersRCV001388172

NM_024675.4(PALB2):c.880A>T (p.Lys294Ter) SNV
Germline
Chr16:23635666 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395135745 rs_753676934

3 SubmittersRCV001388498RCV002377576

NM_024675.4(PALB2):c.691A>T (p.Lys231Ter) SNV
Germline
Chr16:23635855 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395136399 rs_2142437289

1 SubmittersRCV001388611

NM_024675.4(PALB2):c.2733C>T (p.Thr911=) SNV
Germline
Chr16:23626251 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA494161170 rs_1555459927

4 SubmittersRCV001464417RCV003365410RCV005408916

NM_024675.4(PALB2):c.2806T>C (p.Leu936=) SNV
Germline
Chr16:23624037 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA494181112 rs_2142343280

4 SubmittersRCV001492152RCV003225187RCV005453304

NM_024675.4(PALB2):c.2595A>G (p.Ser865=) SNV
Germline
Chr16:23626389 Conflicting classifications of pathogenicity Familial cancer of breast Criteria Provided
Conflicting Classifications
CA494161328 rs_1597085400

3 SubmittersRCV001496554

NM_024675.4(PALB2):c.567A>G (p.Arg189=) SNV
Germline
Chr16:23635979 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA494461778 rs_1597098858

2 SubmittersRCV001493501RCV003584967

NM_024675.4(PALB2):c.349C>T (p.Pro117Ser) SNV
Germline
Chr16:23636197 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395137693 rs_1413238389

3 SubmittersRCV001759141RCV001885094RCV004945712

NM_024675.4(PALB2):c.2275C>T (p.Gln759Ter) SNV
Germline
Chr16:23629879 Pathogenic Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 5
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395125377 rs_515726083

4 SubmittersRCV003237611RCV003451919RCV005416128RCV004040750

NM_024675.4(PALB2):c.1188C>A (p.Cys396Ter) SNV
Germline
Chr16:23635358 Pathogenic Fanconi anemia complementation group N
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395133305 rs_587780817

3 SubmittersRCV001784795RCV003316849

NM_024675.4(PALB2):c.3114-1G>C SNV
Germline
Chr16:23614092 Likely pathogenic Breast and/or ovarian cancer Criteria Provided
Single Submitter
CA395141522 rs_886039619

1 SubmittersRCV001799366

NM_024675.4(PALB2):c.1799T>G (p.Leu600Ter) SNV
Germline
Chr16:23630355 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395128055 rs_1966865838

3 SubmittersRCV001805610RCV001869552

NM_024675.4(PALB2):c.652G>T (p.Glu218Ter) SNV
Germline
Chr16:23635894 Pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA395136492 rs_2142438340

2 SubmittersRCV001872563

NM_024675.4(PALB2):c.1352T>G (p.Leu451Ter) SNV
Germline
Chr16:23635194 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395131522 rs_1966974831

1 SubmittersRCV001941648

NM_024675.4(PALB2):c.2383C>T (p.Gln795Ter) SNV
Germline
Chr16:23629771 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395124615 rs_1966856854

2 SubmittersRCV001960567RCV004044362

NM_024675.4(PALB2):c.1187G>A (p.Cys396Tyr) SNV
Germline
Chr16:23635359 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395133312 rs_2142423374

2 SubmittersRCV002015186RCV005455486

NM_024675.4(PALB2):c.1383T>G (p.Ser461Arg) SNV
Germline
Chr16:23635163 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395131385 rs_768482110

2 SubmittersRCV001889281RCV002386668

NM_024675.4(PALB2):c.3101A>G (p.Asn1034Ser) SNV
Germline
Chr16:23621374 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395142818 rs_2142326183

3 SubmittersRCV002047098RCV002324229

NM_024675.4(PALB2):c.49-1123C>G SNV
Germline
Chr16:23639252 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2573152327 rs_2142467185

2 SubmittersRCV001995273RCV005455469

NM_024675.4(PALB2):c.758T>G (p.Leu253Arg) SNV
Germline
Chr16:23635788 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395136164 rs_2142435363

2 SubmittersRCV001944518RCV004651758

NM_024675.4(PALB2):c.787G>T (p.Glu263Ter) SNV
Germline
Chr16:23635759 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395136048 rs_2142434483

2 SubmittersRCV001896468RCV005382241

NM_024675.4(PALB2):c.209C>G (p.Ser70Ter) SNV
Germline
Chr16:23637852 Pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA395139011 rs_763745734

2 SubmittersRCV002042347

NM_024675.4(PALB2):c.84C>A (p.Tyr28Ter) SNV
Germline
Chr16:23638094 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395139725 rs_761533286

1 SubmittersRCV002044551

NM_024675.4(PALB2):c.2146A>G (p.Asn716Asp) SNV
Germline
Chr16:23630008 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395125704 rs_2142379886

2 SubmittersRCV001919455RCV004656741

NM_024675.4(PALB2):c.1021G>T (p.Glu341Ter) SNV
Germline
Chr16:23635525 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395134370 rs_2142428256

2 SubmittersRCV001954902RCV002407093

NM_024675.4(PALB2):c.1967C>T (p.Pro656Leu) SNV
Germline
Chr16:23630187 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA279493140 rs_370360082

2 SubmittersRCV001895058RCV004945759

NM_024675.4(PALB2):c.665T>A (p.Leu222Ter) SNV
Germline
Chr16:23635881 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395136454 rs_2142437926

1 SubmittersRCV001946504

NM_024675.4(PALB2):c.84C>G (p.Tyr28Ter) SNV
Germline
Chr16:23638094 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395139726 rs_761533286

1 SubmittersRCV001941952

NM_024675.4(PALB2):c.3180T>A (p.Cys1060Ter) SNV
Germline
Chr16:23614025 Pathogenic/Likely pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA395141184 rs_2142298948

3 SubmittersRCV001941626

NM_024675.4(PALB2):c.1804C>T (p.Gln602Ter) SNV
Germline
Chr16:23630350 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395128029 rs_876660475

4 SubmittersRCV001970218RCV002407185

NM_024675.4(PALB2):c.2350A>T (p.Lys784Ter) SNV
Germline
Chr16:23629804 Pathogenic/Likely pathogenic Familial cancer of breast
Fanconi anemia complementation group N
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395124880 rs_1833331932

4 SubmittersRCV001970020RCV003130638RCV004044375

NM_024675.4(PALB2):c.1675C>G (p.Gln559Glu) SNV
Germline
Chr16:23634871 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395129922 rs_1555461154

2 SubmittersRCV001885824RCV004656699

NM_024675.4(PALB2):c.433A>G (p.Ser145Gly) SNV
Germline
Chr16:23636113 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395137290 rs_2142443524

2 SubmittersRCV002030553RCV002331572

NM_024675.4(PALB2):c.821C>T (p.Thr274Ile) SNV
Germline
Chr16:23635725 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA279499394 rs_867994747

2 SubmittersRCV001931483RCV004945812

NM_024675.4(PALB2):c.30C>G (p.Ser10Arg) SNV
Germline
Chr16:23641128 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA7963889 rs_758500749

2 SubmittersRCV002019440RCV003355751

NM_024675.4(PALB2):c.535C>T (p.Gln179Ter) SNV
Germline
Chr16:23636011 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395136927 rs_730881903

4 SubmittersRCV001963210RCV004945838

NM_024675.4(PALB2):c.2014G>T (p.Glu672Ter) SNV
Germline
Chr16:23630140 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395127066 rs_45532440

1 SubmittersRCV001992625

NM_024675.4(PALB2):c.3456A>G (p.Pro1152=) SNV
Germline
Chr16:23603564 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Criteria Provided
Conflicting Classifications
CA494173610 rs_2142253411

3 SubmittersRCV002164567RCV002454557RCV005397333

NM_024675.4(PALB2):c.477G>A (p.Glu159=) SNV
Germline
Chr16:23636069 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA494461950 rs_1163253431

6 SubmittersRCV002159422RCV002479850RCV003585196RCV005361938

NM_024675.4(PALB2):c.58A>T (p.Lys20Ter) SNV
Germline
Chr16:23638120 Pathogenic/Likely pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA395139930 rs_2142461082

2 SubmittersRCV002223100

NM_024675.4(PALB2):c.2586+30G>A SNV
Germline
Chr16:23629174 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Criteria Provided
Conflicting Classifications
CA7963533 rs_769118926

2 SubmittersRCV002226282RCV004596528

NM_024675.4(PALB2):c.3351-7C>T SNV
Germline
Chr16:23603676 Conflicting classifications of pathogenicity Familial cancer of breast Criteria Provided
Conflicting Classifications
CA1139532234 rs_2142255767

2 SubmittersRCV002272685

NM_024675.4(PALB2):c.758T>C (p.Leu253Pro) SNV
Germline
Chr16:23635788 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395136166 rs_2142435363

2 SubmittersRCV002288318RCV002391399

NM_024675.4(PALB2):c.47A>C (p.Lys16Thr) SNV
Germline
Chr16:23641111 Likely pathogenic Hereditary breast ovarian cancer syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA395141005 rs_1064795514

2 SubmittersRCV003156021RCV004697206

NM_024675.4(PALB2):c.454A>T (p.Lys152Ter) SNV
Germline
Chr16:23636092 Pathogenic Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Criteria Provided
Single Submitter
CA395137206 rs_2506511810

2 SubmittersRCV003156022RCV003454093

NM_024675.4(PALB2):c.3351-2A>T SNV
Germline
Chr16:23603671 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA395138435 rs_1060502764

3 SubmittersRCV002325724RCV003156024RCV004809809

NM_024675.4(PALB2):c.3380G>A (p.Cys1127Tyr) SNV
Germline
Chr16:23603640 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA7963345 rs_759944815

2 SubmittersRCV002451830RCV003607453

NM_024675.4(PALB2):c.3350+2C>T SNV
Germline
Chr16:23607862 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395139174 rs_1555458171

2 SubmittersRCV002320978RCV004047797

NM_024675.4(PALB2):c.1157C>T (p.Thr386Ile) SNV
Germline
Chr16:23635389 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395133493 rs_876660840

2 SubmittersRCV003500713RCV002355558

NM_024675.4(PALB2):c.1174G>T (p.Glu392Ter) SNV
Germline
Chr16:23635372 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
CA395133413 rs_2142423775

1 SubmittersRCV002333831

NM_024675.4(PALB2):c.3315G>A (p.Val1105=) SNV
Germline
Chr16:23607899 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA494175510 rs_2142271728

3 SubmittersRCV002454725RCV003500705

NM_024675.4(PALB2):c.3113+1G>C SNV
Germline
Chr16:23621361 Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395142751 rs_1597079557

2 SubmittersRCV002326111RCV003454100

NM_024675.4(PALB2):c.358A>G (p.Arg120Gly) SNV
Germline
Chr16:23636188 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395137623 rs_2142445228

2 SubmittersRCV002339826RCV005096322

NM_024675.4(PALB2):c.376G>A (p.Glu126Lys) SNV
Germline
Chr16:23636170 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7963797 rs_577006107

3 SubmittersRCV002363862RCV003500711RCV003478969

NM_024675.4(PALB2):c.1273G>C (p.Val425Leu) SNV
Germline
Chr16:23635273 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395132638 rs_576081828

2 SubmittersRCV002378893RCV005097317

NM_024675.4(PALB2):c.703A>G (p.Thr235Ala) SNV
Germline
Chr16:23635843 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395136368 rs_2142436855

2 SubmittersRCV002364948RCV003607481

NM_024675.4(PALB2):c.1257C>A (p.Cys419Ter) SNV
Germline
Chr16:23635289 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
CA395132823 rs_786201086

1 SubmittersRCV002419503

NM_024675.4(PALB2):c.934A>T (p.Ser312Cys) SNV
Germline
Chr16:23635612 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395135229 rs_1401541483

2 SubmittersRCV002371687RCV003774174

NM_024675.4(PALB2):c.1725G>A (p.Trp575Ter) SNV
Germline
Chr16:23630429 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395128363 rs_2142390682

3 SubmittersRCV002399116RCV003454280

NM_024675.4(PALB2):c.1879G>C (p.Val627Leu) SNV
Germline
Chr16:23630275 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395127657 rs_1567218614

2 SubmittersRCV002415264RCV003774539

NM_024675.4(PALB2):c.1894G>T (p.Glu632Ter) SNV
Germline
Chr16:23630260 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
CA395127604 rs_2142386640

1 SubmittersRCV002408081

NM_024675.4(PALB2):c.1603A>G (p.Ser535Gly) SNV
Germline
Chr16:23634943 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA395130513 rs_2142411421

3 SubmittersRCV002398735RCV003321942

NM_024675.4(PALB2):c.1969G>T (p.Glu657Ter) SNV
Germline
Chr16:23630185 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
CA395127323 rs_2142384677

1 SubmittersRCV002423443

NM_024675.4(PALB2):c.2635A>T (p.Arg879Ter) SNV
Germline
Chr16:23626349 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395122158 rs_1555459994

2 SubmittersRCV002428590RCV003336742

NM_024675.4(PALB2):c.1A>C (p.Met1Leu) SNV
Germline
Chr16:23641157 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
CA395141291 rs_879254144

1 SubmittersRCV002417103

NM_024675.4(PALB2):c.2297C>G (p.Ser766Ter) SNV
Germline
Chr16:23629857 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395125283 rs_1555460410

2 SubmittersRCV002446269RCV003098785

NM_024675.4(PALB2):c.2T>G (p.Met1Arg) SNV
Germline
Chr16:23641156 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA395141286 rs_756519825

4 SubmittersRCV002435654RCV003102964RCV004999767

NM_024675.4(PALB2):c.2T>A (p.Met1Lys) SNV
Germline
Chr16:23641156 Pathogenic Gastric cancer No Assertion Criteria Provided
CA395141289 rs_756519825

1 SubmittersRCV003164576

NM_024675.4(PALB2):c.2586+1G>A SNV
Germline
Chr16:23629203 Pathogenic/Likely pathogenic Familial cancer of breast
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA395123610 rs_1375713365

3 SubmittersRCV003064332RCV003321970

NM_024675.4(PALB2):c.3114-239A>T SNV
Germline
Chr16:23614330 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2580091263 rs_2506269944

2 SubmittersRCV003075381RCV004071807

NM_024675.4(PALB2):c.2587-15T>C SNV
Germline
Chr16:23626412 Conflicting classifications of pathogenicity Familial cancer of breast Criteria Provided
Conflicting Classifications
CA2575946419 rs_2142356956

2 SubmittersRCV003080810

NM_024675.4(PALB2):c.2717G>A (p.Trp906Ter) SNV
Germline
Chr16:23626267 Pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA395121884 rs_2142353580

2 SubmittersRCV002611968

NM_024675.4(PALB2):c.1255T>C (p.Cys419Arg) SNV
Germline
Chr16:23635291 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395132854 rs_2142421373

2 SubmittersRCV002717256RCV004067773

NM_024675.4(PALB2):c.3202-9C>A SNV
Germline
Chr16:23608021 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2213428981 rs_757444247

2 SubmittersRCV002736157RCV005251328

NM_024675.4(PALB2):c.182A>T (p.Gln61Leu) SNV
Germline
Chr16:23637879 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395139076 rs_1354687901

2 SubmittersRCV002785728RCV004946046

NM_024675.4(PALB2):c.1858G>T (p.Gly620Ter) SNV
Germline
Chr16:23630296 Pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA395127751 rs_777940379

2 SubmittersRCV002807323

NM_024675.4(PALB2):c.2277A>T (p.Gln759His) SNV
Germline
Chr16:23629877 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395125368 rs_786202524

2 SubmittersRCV002856618RCV005455611

NM_024675.4(PALB2):c.48+8G>C SNV
Germline
Chr16:23641102 Conflicting classifications of pathogenicity Familial cancer of breast Criteria Provided
Conflicting Classifications
CA2580091243 rs_2142480527

2 SubmittersRCV002833664

NM_024675.4(PALB2):c.962T>G (p.Leu321Ter) SNV
Germline
Chr16:23635584 Pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA395134962 rs_2142429833

2 SubmittersRCV002857111

NM_024675.4(PALB2):c.715A>T (p.Arg239Ter) SNV
Germline
Chr16:23635831 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395136320 rs_1967026821

1 SubmittersRCV002872244

NM_024675.4(PALB2):c.1536C>G (p.Tyr512Ter) SNV
Germline
Chr16:23635010 Pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA395130911 rs_1567220802

2 SubmittersRCV002898881

NM_024675.4(PALB2):c.1684+2T>A SNV
Germline
Chr16:23634860 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395129858 rs_2142409238

2 SubmittersRCV002913112RCV003367903

NM_024675.4(PALB2):c.1490A>G (p.Asn497Ser) SNV
Germline
Chr16:23635056 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395131096 rs_1966962812

2 SubmittersRCV002947546RCV004067106

NM_024675.4(PALB2):c.1549A>T (p.Lys517Ter) SNV
Germline
Chr16:23634997 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395130831 rs_2506473795

1 SubmittersRCV002954240

NM_024675.4(PALB2):c.2578G>T (p.Glu860Ter) SNV
Germline
Chr16:23629212 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395123667 rs_1966853670

2 SubmittersRCV002958045RCV003367916

NM_024675.4(PALB2):c.3303C>T (p.Leu1101=) SNV
Germline
Chr16:23607911 Conflicting classifications of pathogenicity Familial cancer of breast Criteria Provided
Conflicting Classifications
CA494175553 rs_2506215064

2 SubmittersRCV003032076

NM_024675.4(PALB2):c.2555C>T (p.Pro852Leu) SNV
Germline
Chr16:23629235 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395123750 rs_2142368283

2 SubmittersRCV003023810RCV004654098

NM_024675.4(PALB2):c.3004G>T (p.Glu1002Ter) SNV
Germline
Chr16:23621471 Pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA395143203 rs_2142328421

2 SubmittersRCV003047180

NM_024675.4(PALB2):c.2058G>C (p.Arg686Ser) SNV
Germline
Chr16:23630096 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395126761 rs_771376636

2 SubmittersRCV003127146RCV004245979

NM_024675.4(PALB2):c.854C>A (p.Ser285Ter) SNV
Unknown
Chr16:23635692 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395135850 rs_180177094

1 SubmittersRCV003140367

NM_024675.4(PALB2):c.27C>T (p.Leu9=) SNV
Germline
Chr16:23641131 Conflicting classifications of pathogenicity Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA494168470 rs_749298208

2 SubmittersRCV003142288RCV005422268

NM_024675.4(PALB2):c.280G>T (p.Glu94Ter) SNV
Germline
Chr16:23636266 Pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395138843 rs_45602040

3 SubmittersRCV003182763RCV003228144RCV005425115

NM_024675.4(PALB2):c.3254T>A (p.Leu1085Ter) SNV
Germline
Chr16:23607960 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
CA395139801 rs_780524136

1 SubmittersRCV003182764

NM_024675.4(PALB2):c.2514+1G>T SNV
Germline
Chr16:23629639 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
CA395123913 rs_886039729

1 SubmittersRCV003182766

NM_024675.4(PALB2):c.2038G>T (p.Gly680Ter) SNV
Germline
Chr16:23630116 Pathogenic/Likely pathogenic Condition: not provided
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395126914 rs_1223755856

3 SubmittersRCV003229332RCV003455782

NM_024675.4(PALB2):c.3457C>G (p.Pro1153Ala) SNV
Germline
Chr16:23603563 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395138078 rs_1966399624

3 SubmittersRCV003230139RCV003607576RCV004285639

NM_024675.4(PALB2):c.2995G>T (p.Gly999Ter) SNV
Germline
Chr16:23622970 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395143834 rs_1269970394

3 SubmittersRCV003311306RCV003455792

NM_024675.4(PALB2):c.1560C>A (p.Cys520Ter) SNV
Unknown
Chr16:23634986 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395130763 rs_2142412586

1 SubmittersRCV003316918

NM_024675.4(PALB2):c.108+2T>G SNV
Germline
Chr16:23638068 Pathogenic/Likely pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA395139553 rs_2142459705

2 SubmittersRCV003316941

NM_024675.4(PALB2):c.874C>T (p.Gln292Ter) SNV
Germline
Chr16:23635672 Pathogenic Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395135773 rs_1335897946

3 SubmittersRCV003317953RCV003455798

NM_024675.4(PALB2):c.2835-1G>T SNV
Germline
Chr16:23623131 Likely pathogenic Familial cancer of breast No Assertion Criteria Provided
CA395144549 rs_515726099

1 SubmittersRCV003485910

NM_024675.4(PALB2):c.373C>T (p.Gln125Ter) SNV
Germline
Chr16:23636173 Pathogenic/Likely pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA395137513 rs_2142444897

3 SubmittersRCV003485911

NM_024675.4(PALB2):c.1543A>T (p.Lys515Ter) SNV
Germline
Chr16:23635003 Pathogenic Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395130869 rs_1188755325

3 SubmittersRCV003326936RCV003455801RCV003585380

NM_024675.4(PALB2):c.1135A>T (p.Lys379Ter) SNV
Germline
Chr16:23635411 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA395133619 rs_2142424902

1 SubmittersRCV003328908

NM_024675.4(PALB2):c.991G>T (p.Glu331Ter) SNV
Germline
Chr16:23635555 Pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA395134714 rs_878855126

2 SubmittersRCV003336888

NM_024675.4(PALB2):c.191C>A (p.Ser64Ter) SNV
Unknown
Chr16:23637870 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395139044 rs_1567223942

1 SubmittersRCV003335750

NM_024675.4(PALB2):c.2835-2A>G SNV
Germline
Chr16:23623132 Likely pathogenic Fanconi anemia complementation group N
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395144551 rs_886039613

2 SubmittersRCV003340766RCV003455803

NM_024675.4(PALB2):c.1740T>G (p.Tyr580Ter) SNV
Germline
Chr16:23630414 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395128296 rs_2142390387

2 SubmittersRCV003455810RCV003360869

NM_024675.4(PALB2):c.109-2A>T SNV
Unknown
Chr16:23637954 Likely pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA395139502 rs_730881897

2 SubmittersRCV003450443

NM_024675.4(PALB2):c.49-2A>G SNV
Germline
Chr16:23638131 Conflicting classifications of pathogenicity Familial cancer of breast Criteria Provided
Conflicting Classifications
CA395140049 rs_786203245

2 SubmittersRCV003476607

NM_024675.4(PALB2):c.532G>T (p.Glu178Ter) SNV
Unknown
Chr16:23636014 Pathogenic/Likely pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA395136941 rs_1597098960

2 SubmittersRCV003450476

NM_024675.4(PALB2):c.2834+2T>A SNV
Germline
Chr16:23624007 Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395144747 rs_864622481

3 SubmittersRCV003450451RCV004364752

NM_024675.4(PALB2):c.1610C>A (p.Ser537Ter) SNV
Germline
Chr16:23634936 Pathogenic/Likely pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA395130459 rs_142103232

3 SubmittersRCV003452234

NM_024675.4(PALB2):c.2587-1G>A SNV
Unknown
Chr16:23626398 Likely pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395122286 rs_761214886

1 SubmittersRCV003450440

NM_024675.4(PALB2):c.2997-2A>G SNV
Unknown
Chr16:23621480 Likely pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395143252 rs_1555459421

1 SubmittersRCV003450441

NM_024675.4(PALB2):c.2748+2T>A SNV
Unknown
Chr16:23626234 Likely pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395121812 rs_1060499821

1 SubmittersRCV003450442

NM_024675.4(PALB2):c.109-1G>A SNV
Germline
Chr16:23637953 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395139500 rs_2142458017

3 SubmittersRCV003450444RCV005455798

NM_024675.4(PALB2):c.3350+2C>A SNV
Germline
Chr16:23607862 Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395139184 rs_1555458171

2 SubmittersRCV005403315RCV003450445

NM_024675.4(PALB2):c.3114-2A>G SNV
Germline
Chr16:23614093 Likely pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA395141527 rs_2142300348

2 SubmittersRCV003450447

NM_024675.4(PALB2):c.3G>T (p.Met1Ile) SNV
Unknown
Chr16:23641155 Likely pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395141271 rs_1057517585

1 SubmittersRCV003450448

NM_024675.4(PALB2):c.3201+1G>A SNV
Germline
Chr16:23614003 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395141079 rs_587776423

3 SubmittersRCV003450450RCV004943042

NM_024675.4(PALB2):c.3113G>C (p.Trp1038Ser) SNV
Unknown
Chr16:23621362 Likely pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395142753 rs_180177132

1 SubmittersRCV003450453

NM_024675.4(PALB2):c.1592T>A (p.Leu531Ter) SNV
Unknown
Chr16:23634954 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA279498153 rs_540962715

1 SubmittersRCV003450461

NM_024675.4(PALB2):c.2068C>T (p.Gln690Ter) SNV
Unknown
Chr16:23630086 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395126666 rs_1555460505

1 SubmittersRCV003450464

NM_024675.4(PALB2):c.3010C>T (p.Gln1004Ter) SNV
Germline
Chr16:23621465 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395143174 rs_2142328321

3 SubmittersRCV003585399RCV003450466

NM_024675.4(PALB2):c.412G>T (p.Glu138Ter) SNV
Unknown
Chr16:23636134 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395137362 rs_1967048357

1 SubmittersRCV003450467

NM_024675.4(PALB2):c.313G>T (p.Glu105Ter) SNV
Unknown
Chr16:23636233 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395138778 rs_1307895700

1 SubmittersRCV003450471

NM_024675.4(PALB2):c.55G>T (p.Glu19Ter) SNV
Unknown
Chr16:23638123 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395139966 rs_2142461160

1 SubmittersRCV003450472

NM_024675.4(PALB2):c.2444C>G (p.Ser815Ter) SNV
Unknown
Chr16:23629710 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395124200 rs_879254068

1 SubmittersRCV003450475

NM_024675.4(PALB2):c.2735G>A (p.Trp912Ter) SNV
Germline
Chr16:23626249 Pathogenic Familial cancer of breast Criteria Provided
Multiple Submitters
No Conflicts
CA395121842 rs_2142353165

2 SubmittersRCV003450477

NM_024675.4(PALB2):c.470C>A (p.Ser157Ter) SNV
Unknown
Chr16:23636076 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395137141 rs_749078410

1 SubmittersRCV003450478

NM_024675.4(PALB2):c.1414C>T (p.Gln472Ter) SNV
Germline
Chr16:23635132 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395131320 rs_2142416694

2 SubmittersRCV004943043RCV003450479

NM_024675.4(PALB2):c.3238A>T (p.Lys1080Ter) SNV
Unknown
Chr16:23607976 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395139942 rs_1966511830

1 SubmittersRCV003450480

NM_024675.4(PALB2):c.1582G>T (p.Glu528Ter) SNV
Unknown
Chr16:23634964 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395130634 rs_1966955447

1 SubmittersRCV003450487

NM_024675.4(PALB2):c.268G>T (p.Glu90Ter) SNV
Germline
Chr16:23636278 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts
CA395138867 rs_2142447291

2 SubmittersRCV004943044RCV003450489

NM_024675.4(PALB2):c.1892C>G (p.Ser631Ter) SNV
Unknown
Chr16:23630262 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395127611 rs_2142386665

1 SubmittersRCV003450493

NM_024675.4(PALB2):c.964G>T (p.Glu322Ter) SNV
Unknown
Chr16:23635582 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395134933 rs_1597097656

1 SubmittersRCV003450497

NM_024675.4(PALB2):c.1948G>T (p.Glu650Ter) SNV
Unknown
Chr16:23630206 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395127403 rs_1597090662

1 SubmittersRCV003450500

NM_024675.4(PALB2):c.33T>A (p.Cys11Ter) SNV
Unknown
Chr16:23641125 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395141083 rs_2142481060

1 SubmittersRCV003450503

NM_024675.4(PALB2):c.3419G>A (p.Trp1140Ter) SNV
Unknown
Chr16:23603601 Pathogenic/Likely pathogenic Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Multiple Submitters
No Conflicts
CA395138212 rs_1060502809

2 SubmittersRCV003450504RCV004560172

NM_024675.4(PALB2):c.3139A>T (p.Lys1047Ter) SNV
Unknown
Chr16:23614066 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395141365 rs_2506266710

1 SubmittersRCV003452231

NM_024675.4(PALB2):c.2297C>A (p.Ser766Ter) SNV
Unknown
Chr16:23629857 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395125285 rs_1555460410

1 SubmittersRCV003452239

NM_024675.4(PALB2):c.2658T>A (p.Cys886Ter) SNV
Unknown
Chr16:23626326 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395122097 rs_2142354911

1 SubmittersRCV003452246

NM_024675.4(PALB2):c.3119T>A (p.Leu1040Ter) SNV
Unknown
Chr16:23614086 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395141477 rs_2142300225

1 SubmittersRCV003452255

NM_024675.4(PALB2):c.1002C>G (p.Tyr334Ter) SNV
Unknown
Chr16:23635544 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395134614 rs_1967002667

1 SubmittersRCV003452262

NM_024675.4(PALB2):c.3241G>T (p.Glu1081Ter) SNV
Unknown
Chr16:23607973 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395139906 rs_2142273676

1 SubmittersRCV003452276

NM_024675.4(PALB2):c.2604T>A (p.Cys868Ter) SNV
Unknown
Chr16:23626380 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395122230 rs_2142356386

1 SubmittersRCV003452279

NM_024675.4(PALB2):c.1111G>T (p.Glu371Ter) SNV
Unknown
Chr16:23635435 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395133779 rs_1312378621

1 SubmittersRCV003452282

NM_024675.4(PALB2):c.2444C>A (p.Ser815Ter) SNV
Unknown
Chr16:23629710 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395124202 rs_879254068

1 SubmittersRCV003452284

NM_024675.4(PALB2):c.3119T>G (p.Leu1040Ter) SNV
Germline
Chr16:23614086 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395141471 rs_2142300225

2 SubmittersRCV003452298RCV005455800

NM_024675.4(PALB2):c.2174C>G (p.Ser725Ter) SNV
Unknown
Chr16:23629980 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395125643 rs_1567217931

1 SubmittersRCV003452315

NM_024675.4(PALB2):c.3403G>T (p.Gly1135Ter) SNV
Unknown
Chr16:23603617 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395138242 rs_2142254584

1 SubmittersRCV003452326

NM_024675.4(PALB2):c.2647A>T (p.Lys883Ter) SNV
Unknown
Chr16:23626337 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395122133 rs_1966842668

1 SubmittersRCV003452331

NM_024675.4(PALB2):c.1841T>A (p.Leu614Ter) SNV
Unknown
Chr16:23630313 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395127846 rs_1555460628

1 SubmittersRCV003452370

NM_024675.4(PALB2):c.2580G>C (p.Glu860Asp) SNV
Germline
Chr16:23629210 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Criteria Provided
Conflicting Classifications
CA395123654 rs_1348398121

4 SubmittersRCV003477328RCV003585417RCV005356448

NM_024675.4(PALB2):c.62T>A (p.Leu21Ter) SNV
Germline
Chr16:23638116 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 5 Criteria Provided
Single Submitter
CA395139893 rs_769240800

1 SubmittersRCV003484442

NM_024675.4(PALB2):c.3327T>A (p.Cys1109Ter) SNV
Germline
Chr16:23607887 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
CA395139353 rs_2142271504

1 SubmittersRCV003484243

NM_024675.4(PALB2):c.2175A>T (p.Ser725=) SNV
Germline
Chr16:23629979 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA494461128 rs_2142379081

2 SubmittersRCV003500951RCV004366462

NM_024675.4(PALB2):c.3202-13T>C SNV
Germline
Chr16:23608025 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
not specified
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA2697555733 rs_2142274636

5 SubmittersRCV003585421RCV003596262RCV005230518RCV003500873

NM_024675.4(PALB2):c.442A>T (p.Lys148Ter) SNV
Germline
Chr16:23636104 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395137253 rs_2142443334

1 SubmittersRCV003501301

NM_024675.4(PALB2):c.307G>C (p.Gly103Arg) SNV
Germline
Chr16:23636239 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395138791 rs_2142446440

2 SubmittersRCV003501481RCV004943084

NM_024675.4(PALB2):c.48+4C>A SNV
Germline
Chr16:23641106 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2697555740 rs_876659843

3 SubmittersRCV003500287RCV005387207

NM_024675.4(PALB2):c.2786A>G (p.Tyr929Cys) SNV
Germline
Chr16:23624057 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
PALB2-related disorder
Criteria Provided
Conflicting Classifications
CA395145070 rs_1249404804

3 SubmittersRCV003585684RCV004723393

NM_024675.4(PALB2):c.1615G>A (p.Val539Ile) SNV
Germline
Chr16:23634931 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395130420 rs_2142411065

2 SubmittersRCV003607625RCV005468001

NM_024675.4(PALB2):c.927A>G (p.Ile309Met) SNV
Germline
Chr16:23635619 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA395135283 rs_1326253995

2 SubmittersRCV003607879RCV005387224

NM_024675.4(PALB2):c.2400T>A (p.Cys800Ter) SNV
Germline
Chr16:23629754 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395124462 rs_2142373865

1 SubmittersRCV003607843

NM_024675.4(PALB2):c.50T>A (p.Leu17Ter) SNV
Germline
Chr16:23638128 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395140025 rs_1567224232

1 SubmittersRCV003607890

NM_024675.4(PALB2):c.3252G>T (p.Ser1084=) SNV
Germline
Chr16:23607962 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA494175748 rs_141570833

2 SubmittersRCV003608266RCV005403344

NM_024675.4(PALB2):c.2582T>G (p.Leu861Ter) SNV
Germline
Chr16:23629208 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395123639 rs_2142367705

1 SubmittersRCV003608365

NM_024675.4(PALB2):c.2992G>T (p.Gly998Ter) SNV
Germline
Chr16:23622973 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
CA395143840 rs_1039184417

1 SubmittersRCV003608380

NM_024675.4(PALB2):c.1224T>G (p.Tyr408Ter) SNV
Germline
Chr16:23635322 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 5
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA395133110 rs_2142422250

2 SubmittersRCV004017206RCV004943298

NM_024675.4(PALB2):c.1064T>A (p.Leu355Ter) SNV
Germline
Chr16:23635482 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
CA395134053 rs_1597097263

1 SubmittersRCV004517722

NM_024675.4(PALB2):c.1838A>T (p.Gln613Leu) SNV
Germline
Chr16:23630316 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA395127862 rs_1966865170

2 SubmittersRCV004517741RCV005100631

NM_024675.4(PALB2):c.2653C>T (p.Pro885Ser) SNV
Germline
Chr16:23626331 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Inherited breast cancer and ovarian cancer
Criteria Provided
Conflicting Classifications
CA395122114 rs_878855111

2 SubmittersRCV004517758RCV004584242

NM_024675.4(PALB2):c.2817G>A (p.Leu939=) SNV
Germline
Chr16:23624026 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA494181085 rs_1555459710

3 SubmittersRCV004517764RCV005100633

NM_024675.4(PALB2):c.2997-1G>C SNV
Germline
Chr16:23621479 Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
rs_754465466

2 SubmittersRCV004589108RCV005468117

NM_024675.4(PALB2):c.2793C>A (p.Leu931=) SNV
Germline
Chr16:23624050 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Criteria Provided
Conflicting Classifications

3 SubmittersRCV004650735RCV005102351

NM_024675.4(PALB2):c.1660G>T (p.Glu554Ter) SNV
Germline
Chr16:23634886 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004664045

NM_024675.4(PALB2):c.3350+1G>C SNV
Germline
Chr16:23607863 Likely pathogenic Condition: not provided
Familial cancer of breast
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004697935RCV005249713

NM_024675.4(PALB2):c.2053A>T (p.Lys685Ter) SNV
Germline
Chr16:23630101 Likely pathogenic PALB2-related disorder No Assertion Criteria Provided

1 SubmittersRCV004728151

NM_024675.4(PALB2):c.2045C>A (p.Ser682Ter) SNV
Germline
Chr16:23630109 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004945566

NM_024675.4(PALB2):c.283A>T (p.Lys95Ter) SNV
Germline
Chr16:23636263 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004945583

NM_024675.4(PALB2):c.1873G>T (p.Glu625Ter) SNV
Germline
Chr16:23630281 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004945586

NM_024675.4(PALB2):c.237T>G (p.Tyr79Ter) SNV
Germline
Chr16:23636309 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004945589

NM_024675.4(PALB2):c.3114-2A>C SNV
Germline
Chr16:23614093 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004945614

NM_024675.4(PALB2):c.231T>A (p.Cys77Ter) SNV
Germline
Chr16:23636315 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter

1 SubmittersRCV005125127

NM_024675.4(PALB2):c.1951G>T (p.Gly651Ter) SNV
Germline
Chr16:23630203 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter

1 SubmittersRCV005138426

NM_024675.4(PALB2):c.733G>T (p.Ala245Ser) SNV
Germline
Chr16:23635813 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005187562RCV005387383

NM_024675.4(PALB2):c.2515-2A>C SNV
Germline
Chr16:23629277 Likely pathogenic Familial cancer of breast Criteria Provided
Single Submitter

1 SubmittersRCV005203142

NM_024675.4(PALB2):c.3173C>A (p.Ser1058Ter) SNV
Germline
Chr16:23614032 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter

1 SubmittersRCV005197201

NM_024675.4(PALB2):c.211+1G>C SNV
Unknown
Chr16:23637849 Likely pathogenic Familial cancer of breast Criteria Provided
Single Submitter

1 SubmittersRCV005246180

NM_024675.4(PALB2):c.2959C>T (p.Gln987Ter) SNV
Germline
Chr16:23623006 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005251460

NM_024675.4(PALB2):c.2472T>A (p.Cys824Ter) SNV
Germline
Chr16:23629682 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 5 Criteria Provided
Single Submitter

1 SubmittersRCV005365748

NM_024675.4(PALB2):c.2841G>A (p.Leu947=) SNV
Germline
Chr16:23623124 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 5
Familial cancer of breast
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005362308RCV005422603

NM_024675.4(PALB2):c.2518G>T (p.Glu840Ter) SNV
Germline
Chr16:23629272 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005427001

NM_024675.4(PALB2):c.271G>T (p.Glu91Ter) SNV
Germline
Chr16:23636275 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005451583

NM_024675.4(PALB2):c.160G>T (p.Glu54Ter) SNV
Germline
Chr16:23637901 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005451594

NM_024675.4(PALB2):c.1876A>T (p.Lys626Ter) SNV
Germline
Chr16:23630278 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005451598

NM_024675.4(PALB2):c.1A>T (p.Met1Leu) SNV
Germline
Chr16:23641157 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005451603

NM_024675.4(PALB2):c.3532G>T (p.Gly1178Ter) SNV
Unknown
Chr16:23603488 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter

1 SubmittersRCV005621820