ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.737-9T>C

gnomAD frequency: 0.00022  dbSNP: rs914754937
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721452 SCV000534643 likely benign not provided 2021-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000466381 SCV000561350 benign X-linked myopathy with postural muscle atrophy 2024-01-28 criteria provided, single submitter clinical testing

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