ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1919A>C (p.Asn640Thr)

dbSNP: rs886043196
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000259299 SCV000338902 uncertain significance not provided 2016-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001526763 SCV001737319 uncertain significance Miyoshi muscular dystrophy 1 2021-06-10 criteria provided, single submitter clinical testing

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