ClinVar Miner

Submissions for variant NM_001077415.3(CRELD1):c.932C>T (p.Thr311Ile)

gnomAD frequency: 0.00055  dbSNP: rs28942092
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498207 SCV000589321 likely benign not provided 2023-01-27 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV000003597 SCV001640421 likely benign Atrioventricular septal defect, susceptibility to, 2 2023-12-18 criteria provided, single submitter clinical testing
OMIM RCV000003597 SCV000023755 risk factor Atrioventricular septal defect, susceptibility to, 2 2003-04-01 no assertion criteria provided literature only

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