ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.7053C>T (p.Ile2351=)

gnomAD frequency: 0.00023  dbSNP: rs187011600
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000970968 SCV001118579 benign not provided 2024-01-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489408 SCV002797870 likely benign Fraser syndrome 1 2021-09-01 criteria provided, single submitter clinical testing

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