ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5424C>T (p.Pro1808=)

gnomAD frequency: 0.00018  dbSNP: rs137855767
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000289625 SCV000338035 uncertain significance not provided 2015-12-08 criteria provided, single submitter clinical testing
Invitae RCV001088815 SCV001016501 likely benign Qualitative or quantitative defects of dysferlin 2023-12-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274107 SCV001457852 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-09-16 no assertion criteria provided clinical testing

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