ClinVar Miner

Submissions for variant NM_144666.3(DNHD1):c.5617C>A (p.Arg1873Ser)

gnomAD frequency: 0.00166  dbSNP: rs575635539
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001029741 SCV001192530 uncertain significance not provided 2019-10-04 criteria provided, single submitter research ACMG codes: PM2
Breakthrough Genomics, Breakthrough Genomics RCV001029741 SCV005191143 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003906148 SCV004720554 likely benign DNHD1-related disorder 2019-06-18 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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