ClinVar Miner

Submissions for variant NM_001270974.2(HYDIN):c.212G>A (p.Arg71Gln)

dbSNP: rs529769407
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788298 SCV000927355 uncertain significance not provided 2017-07-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004757282 SCV005353478 likely benign HYDIN-related disorder 2024-05-05 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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