ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.5214C>T (p.Tyr1738=)

gnomAD frequency: 0.00021  dbSNP: rs368304108
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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 RCV000945355 SCV001091357 likely benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488022 SCV002800478 likely benign Fraser syndrome 1 2021-12-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960565 SCV004770125 likely benign FRAS1-related disorder 2019-02-18 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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