ClinVar Miner

Submissions for variant NM_000755.5(CRAT):c.954C>T (p.Ser318=)

gnomAD frequency: 0.00146  dbSNP: rs113579980
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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 RCV001518298 SCV001726966 benign not provided 2025-01-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001518298 SCV005319639 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003956189 SCV004768121 likely benign CRAT-related disorder 2019-03-25 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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