ClinVar Miner

Submissions for variant NM_002181.4(IHH):c.1051G>A (p.Val351Met)

gnomAD frequency: 0.00174  dbSNP: rs143959492
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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) RCV000398677 SCV000345411 uncertain significance not provided 2016-09-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000398677 SCV001094846 benign not provided 2024-01-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003897655 SCV004725374 likely benign IHH-related disorder 2019-10-16 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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