ClinVar Miner

Submissions for variant NM_001386125.1(OBSCN):c.15509G>A (p.Arg5170His)

gnomAD frequency: 0.00140  dbSNP: rs56306215
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
Invitae RCV000908641 SCV001053416 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000908641 SCV004125976 benign not provided 2023-03-01 criteria provided, single submitter clinical testing OBSCN: BS1, BS2

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