ClinVar Miner

Submissions for variant NM_005333.5(HCCS):c.521C>T (p.Ala174Val)

gnomAD frequency: 0.00035  dbSNP: rs367601527
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081288 SCV000113196 uncertain significance not provided 2015-02-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000081288 SCV001099065 benign not provided 2018-10-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945019 SCV004761982 likely benign HCCS-related disorder 2022-05-25 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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