ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1000del (p.Arg334fs)

dbSNP: rs1573671276
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeniaGeo, Laboratorio Genia RCV000855415 SCV000994916 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-10-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV003467534 SCV004192263 pathogenic Miyoshi muscular dystrophy 1 2023-01-18 criteria provided, single submitter clinical testing

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