ClinVar Miner

Submissions for variant NM_001165967.2(HES7):c.420G>A (p.Pro140=)

gnomAD frequency: 0.00093  dbSNP: rs200833034
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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) RCV000278747 SCV000337305 uncertain significance not provided 2015-11-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000278747 SCV001045108 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003967739 SCV004784883 likely benign HES7-related disorder 2023-03-08 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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