ClinVar Miner

Submissions for variant NM_015311.3(OBSL1):c.2175G>A (p.Ser725=)

gnomAD frequency: 0.00008  dbSNP: rs376487302
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 RCV002197007 SCV002348040 likely benign not provided 2024-10-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002197007 SCV004151484 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing OBSL1: BP4, BP7

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