|
NM_182924.4(MICALL2):c.851C>G (p.Pro284Arg)
|
SNV Germline |
Chr7:1445219 |
Pathogenic |
Joubert syndrome 1 |
No Assertion Criteria Provided |
CA16044225 |
rs_556808514 |
1 SubmittersRCV000416431 |
|
NM_182924.4(MICALL2):c.2257G>T (p.Ala753Ser)
|
SNV Germline |
Chr7:1438151 |
Conflicting classifications of pathogenicity |
Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA4116782 |
rs_187391312 |
2 SubmittersRCV000889584RCV006287285 |
|
NM_182924.4(MICALL2):c.2458C>T (p.Arg820Trp)
|
SNV Germline |
Chr7:1437553 |
Conflicting classifications of pathogenicity |
Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA4116706 |
rs_200086992 |
2 SubmittersRCV000899355RCV004028491 |