ClinVar Miner

Submissions for variant NM_012079.6(DGAT1):c.1454C>T (p.Ala485Val)

gnomAD frequency: 0.00066  dbSNP: rs200430497
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000914877 SCV001060065 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001729745 SCV001977972 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729745 SCV001980628 benign not specified no assertion criteria provided clinical testing

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