ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His)

gnomAD frequency: 0.00001  dbSNP: rs777489323
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000647986 SCV000769796 likely benign Qualitative or quantitative defects of dysferlin 2024-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765696 SCV000897038 uncertain significance Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2018-10-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001662702 SCV001879873 uncertain significance not provided 2020-12-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001662702 SCV003830937 uncertain significance not provided 2023-02-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835043 SCV002079813 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-09-29 no assertion criteria provided clinical testing

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