ClinVar Miner

Submissions for variant NM_007335.4(DLEC1):c.2613C>T (p.Leu871=)

gnomAD frequency: 0.00591  dbSNP: rs190082830
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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 RCV000885062 SCV001028486 benign not provided 2018-08-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000885062 SCV004149374 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing DLEC1: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000885062 SCV005238146 benign not provided criteria provided, single submitter not provided

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