ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.10390-18A>T

gnomAD frequency: 0.00070  dbSNP: rs146407399
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002128729 SCV002454176 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500252 SCV002806056 likely benign Fraser syndrome 1 2021-10-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002128729 SCV005300849 benign not provided criteria provided, single submitter not provided

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