ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4810A>G (p.Arg1604Gly)

dbSNP: rs1558750109
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711562 SCV000841941 uncertain significance not provided 2018-07-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830578 SCV002082344 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-10-05 no assertion criteria provided clinical testing

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