ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.861G>T (p.Val287=)

gnomAD frequency: 0.00001  dbSNP: rs886043219
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000300898 SCV000338997 uncertain significance not provided 2016-02-05 criteria provided, single submitter clinical testing
Invitae RCV001408567 SCV001610568 likely benign X-linked myopathy with postural muscle atrophy 2024-01-31 criteria provided, single submitter clinical testing

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