ClinVar Miner

Submissions for variant NM_000587.4(C7):c.1542A>G (p.Gln514=)

gnomAD frequency: 0.00109  dbSNP: rs189122703
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002127861 SCV002445634 benign not provided 2024-12-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003903501 SCV004720291 likely benign C7-related disorder 2020-01-27 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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