Indigenome VS ClinVar IDs Relevant information available in ClinVar
Variant Identifiers ClinVar Name Variant Type Clinical Significance Phenotype Condition Review Status Variation/condition record
IndiGenomes: chr22:20987503:G>C
 
ClinVar:           chr22:20987503:G>C 		NM_006767.4(LZTR1):c.321-1G>C SNV
Likely pathogenic Hereditary cancer-predisposing syndrome
Cardiovascular phenotype		 Criteria Provided
Single Submitter

1 SubmittersRCV004995428
IndiGenomes: chr22:20988121:G>C
 
ClinVar:           chr22:20988121:G>C 		NM_006767.4(LZTR1):c.509+3G>C SNV
Likely pathogenic Hereditary cancer-predisposing syndrome
Cardiovascular phenotype		 Criteria Provided
Single Submitter

1 SubmittersRCV004561174
IndiGenomes: chr22:20990526:G>GT
 
ClinVar:           chr22:20990526:G>A 		NM_006767.4(LZTR1):c.791+1G>A SNV
Pathogenic/Likely pathogenic Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis
Schwannomatosis		 Criteria Provided
Multiple Submitters
No Conflicts

7 SubmittersRCV001092753RCV002418577RCV003469290RCV004587044
IndiGenomes: chr22:20991755:C>T
 
ClinVar:           chr22:20991755:CT>TA 		NM_006767.4(LZTR1):c.919_920delinsTA (p.Leu307Ter) Indel
Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005128283
IndiGenomes: chr22:20994728:G>C
 
ClinVar:           chr22:20994728:G>A 		NM_006767.4(LZTR1):c.1785+1G>A SNV
Pathogenic/Likely pathogenic Condition: not provided
LZTR1-related schwannomatosis
Noonan syndrome 2
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts

7 SubmittersRCV000658061RCV001788313RCV002248854RCV002406499
IndiGenomes: chr22:20994970:T>C
 
ClinVar:           chr22:20994970:GT>G 		NM_006767.4(LZTR1):c.1886del (p.Val629fs) Deletion
Pathogenic Hereditary cancer-predisposing syndrome
Cardiovascular phenotype		 Criteria Provided
Single Submitter

1 SubmittersRCV004995495
IndiGenomes: chr22:20995003:C>T
 
ClinVar:           chr22:20995003:C>T 		NM_006767.4(LZTR1):c.1919C>T (p.Pro640Leu) SNV
Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis		 Criteria Provided
Conflicting Classifications

4 SubmittersRCV002014943RCV002407230RCV004571877
IndiGenomes: chr22:20996679:C>T
 
ClinVar:           chr22:20996679:C>A 		NM_006767.4(LZTR1):c.2220-17C>A SNV
Likely pathogenic Noonan syndrome 2
LZTR1-related schwannomatosis
Noonan syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV000735430RCV003465672RCV005357978