ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.846C>T (p.Ala282=)

dbSNP: rs886043307
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000298509 SCV000339392 uncertain significance not provided 2016-02-18 criteria provided, single submitter clinical testing
Invitae RCV001081730 SCV000649911 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2024-01-17 criteria provided, single submitter clinical testing

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