ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.7431G>A (p.Ala2477=)

gnomAD frequency: 0.00004  dbSNP: rs750729569
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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 RCV000904497 SCV001049017 likely benign not provided 2023-12-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502683 SCV002807957 likely benign Fraser syndrome 1 2021-10-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910803 SCV004720546 likely benign FRAS1-related disorder 2019-06-03 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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