ClinVar Miner

Submissions for variant NM_016532.4(INPP5K):c.67G>A (p.Val23Met)

gnomAD frequency: 0.00001  dbSNP: rs750781027
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV000477733 SCV004171329 pathogenic Congenital muscular dystrophy with cataracts and intellectual disability criteria provided, single submitter clinical testing
OMIM RCV000477733 SCV000564231 pathogenic Congenital muscular dystrophy with cataracts and intellectual disability 2024-10-03 no assertion criteria provided literature only

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