ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.737-11_737-8del

gnomAD frequency: 0.00010  dbSNP: rs754404850
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001479097 SCV001683389 likely benign X-linked myopathy with postural muscle atrophy 2022-12-25 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001701145 SCV001920914 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000646193 SCV001930454 likely benign not provided no assertion criteria provided clinical testing

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