ClinVar Miner

Submissions for variant NM_016032.4(ZDHHC9):c.893G>A (p.Arg298Gln)

gnomAD frequency: 0.00001  dbSNP: rs869312679
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000209872 SCV000265541 uncertain significance Syndromic X-linked intellectual disability Raymond type 2014-12-09 criteria provided, single submitter research

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