ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.2625C>T (p.Cys875=)

gnomAD frequency: 0.00001  dbSNP: rs769192947
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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 RCV000979217 SCV001127156 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489439 SCV002795002 likely benign Fraser syndrome 1 2021-09-03 criteria provided, single submitter clinical testing

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