ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4821C>T (p.His1607=)

gnomAD frequency: 0.00005  dbSNP: rs771742780
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000841819 SCV000983806 likely benign not provided 2018-04-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001494748 SCV001699411 likely benign Qualitative or quantitative defects of dysferlin 2025-01-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274848 SCV001459364 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-05-02 no assertion criteria provided clinical testing

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