ClinVar Miner

Submissions for variant NM_001253697.2(ERBIN):c.2733C>T (p.Val911=)

gnomAD frequency: 0.00112  dbSNP: rs145974638
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 RCV000950404 SCV001096709 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000950404 SCV002544946 benign not provided 2022-06-01 criteria provided, single submitter clinical testing ERBIN: BS1, BS2

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