ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.396G>A (p.Pro132=)

gnomAD frequency: 0.00031  dbSNP: rs370747359
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000897995 SCV001042177 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495436 SCV002797434 likely benign Fraser syndrome 1 2021-07-28 criteria provided, single submitter clinical testing

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