ClinVar Miner

Submissions for variant NM_000193.4(SHH):c.213G>A (p.Glu71=)

gnomAD frequency: 0.00026  dbSNP: rs200317108
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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 RCV000640539 SCV000762132 likely benign Holoprosencephaly 3 2024-05-09 criteria provided, single submitter clinical testing
GeneDx RCV001672910 SCV001886290 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004547802 SCV004730326 likely benign SHH-related disorder 2020-07-03 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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