ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2257C>A (p.His753Asn)

gnomAD frequency: 0.00018  dbSNP: rs202123283
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726455 SCV000344777 uncertain significance not provided 2017-01-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000405461 SCV000431753 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000300931 SCV000431754 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000726455 SCV000621284 likely benign not provided 2020-07-29 criteria provided, single submitter clinical testing
Invitae RCV001082501 SCV000649625 likely benign Qualitative or quantitative defects of dysferlin 2024-01-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000726455 SCV001143812 uncertain significance not provided 2018-12-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271788 SCV001453228 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-01-06 no assertion criteria provided clinical testing

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