ClinVar Miner

Submissions for variant NM_144666.3(DNHD1):c.7575G>A (p.Leu2525=)

gnomAD frequency: 0.00234  dbSNP: rs371880816
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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 RCV000973249 SCV001120991 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000973249 SCV005322071 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003918521 SCV004737386 likely benign DNHD1-related disorder 2019-02-21 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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