ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.1534+19A>G

gnomAD frequency: 0.01482  dbSNP: rs6829493
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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 RCV002184579 SCV002347263 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507886 SCV002794650 likely benign Fraser syndrome 1 2021-09-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002184579 SCV005300256 benign not provided criteria provided, single submitter not provided

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