ClinVar Miner

Submissions for variant NM_001386125.1(OBSCN):c.20021G>A (p.Ser6674Asn)

gnomAD frequency: 0.00019  dbSNP: rs376194851
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000749 SCV001157798 likely benign not specified 2018-07-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003413792 SCV004126005 benign not provided 2024-04-01 criteria provided, single submitter clinical testing OBSCN: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003413792 SCV005264319 likely benign not provided criteria provided, single submitter not provided

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