ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4867A>G (p.Ile1623Val)

gnomAD frequency: 0.00002  dbSNP: rs571364996
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000648011 SCV000769821 likely benign Qualitative or quantitative defects of dysferlin 2023-12-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563807 SCV001786841 uncertain significance Miyoshi muscular dystrophy 1 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563808 SCV001786842 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563809 SCV001786843 uncertain significance Distal myopathy with anterior tibial onset 2021-07-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001563808 SCV002082346 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-10-28 no assertion criteria provided clinical testing

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