ClinVar Miner

Submissions for variant NM_023037.3(FRY):c.78C>T (p.Pro26=)

gnomAD frequency: 0.00160  dbSNP: rs184309723
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000893806 SCV001037763 benign not provided 2018-06-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000893806 SCV004701057 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing FRY: BP4, BP7

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