ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.785_793dup (p.Tyr264_Cys265insTyrAspTyr)

dbSNP: rs1603273609
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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) RCV000734167 SCV000862289 uncertain significance not provided 2018-07-05 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network, NIH RCV004799667 SCV005421014 likely pathogenic X-linked scapuloperoneal muscular dystrophy 2024-08-20 criteria provided, single submitter clinical testing

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