ClinVar Miner

Submissions for variant NM_133642.5(LARGE1):c.1071T>C (p.Asn357=)

gnomAD frequency: 0.00092  dbSNP: rs146552975
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173808 SCV000224960 uncertain significance not provided 2015-02-06 criteria provided, single submitter clinical testing
GeneDx RCV000173808 SCV000983365 likely benign not provided 2020-03-26 criteria provided, single submitter clinical testing
Invitae RCV001088205 SCV001018730 benign Muscular dystrophy-dystroglycanopathy type B6 2024-01-29 criteria provided, single submitter clinical testing

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