ClinVar Miner

Submissions for variant NM_000079.4(CHRNA1):c.948C>A (p.Ile316=)

gnomAD frequency: 0.00011  dbSNP: rs141733086
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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) RCV000179711 SCV000232002 uncertain significance not provided 2014-12-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087107 SCV000763774 likely benign Lethal multiple pterygium syndrome 2024-08-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955088 SCV004766792 likely benign CHRNA1-related disorder 2019-07-10 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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