ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.2243G>C (p.Trp748Ser)

dbSNP: rs267606967
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000003386 SCV000023544 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2N 2007-10-01 no assertion criteria provided literature only

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