ClinVar Miner

Submissions for variant NM_005765.3(ATP6AP2):c.321C>T (p.Asp107=) (rs121918521)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000011548 SCV000031780 pathogenic Mental retardation, X-linked, syndromic, Hedera type 2005-04-15 no assertion criteria provided literature only

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