ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2148G>A (p.Ala716=)

gnomAD frequency: 0.00004  dbSNP: rs201239189
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000392895 SCV000341057 uncertain significance not provided 2016-05-02 criteria provided, single submitter clinical testing
Invitae RCV001088299 SCV001020507 likely benign Qualitative or quantitative defects of dysferlin 2023-10-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563802 SCV001786835 likely benign Miyoshi muscular dystrophy 1 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001271786 SCV001786836 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563803 SCV001786837 likely benign Distal myopathy with anterior tibial onset 2021-07-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271786 SCV001453226 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-06-02 no assertion criteria provided clinical testing

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