ClinVar Miner

Submissions for variant NM_144666.3(DNHD1):c.5793G>A (p.Leu1931=)

gnomAD frequency: 0.00357  dbSNP: rs200466112
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000954276 SCV001100899 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000954276 SCV004135851 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing DNHD1: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000954276 SCV005322066 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003926003 SCV004740387 likely benign DNHD1-related disorder 2019-04-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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