ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.790-20C>T

gnomAD frequency: 0.00292  dbSNP: rs74461034
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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 RCV002220048 SCV002377568 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494139 SCV002794853 likely benign Fraser syndrome 1 2021-08-03 criteria provided, single submitter clinical testing

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