ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5010C>T (p.Phe1670=)

gnomAD frequency: 0.00014  dbSNP: rs151276652
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178575 SCV000230684 uncertain significance not provided 2016-07-14 criteria provided, single submitter clinical testing
Invitae RCV001079331 SCV000649711 likely benign Qualitative or quantitative defects of dysferlin 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000178575 SCV002063873 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing DYSF: BP4, BP7
Natera, Inc. RCV001835707 SCV002082353 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-02-21 no assertion criteria provided clinical testing

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