ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.1409T>G (p.Met470Arg) (rs1403946332)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuromuscular disorders lab,University of Helsinki RCV000516073 SCV000612137 pathogenic Limb-girdle muscular dystrophy, type 2L 2016-12-20 criteria provided, single submitter research

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