ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4712C>T (p.Thr1571Met)

gnomAD frequency: 0.00010  dbSNP: rs144422408
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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) RCV000729424 SCV000857085 uncertain significance not provided 2017-09-22 criteria provided, single submitter clinical testing
Invitae RCV001243182 SCV001416321 benign Qualitative or quantitative defects of dysferlin 2024-01-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000729424 SCV003830943 uncertain significance not provided 2022-06-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825453 SCV002082337 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-10-28 no assertion criteria provided clinical testing

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