ClinVar Miner

Submissions for variant NM_016032.4(ZDHHC9):c.519G>A (p.Gly173=)

gnomAD frequency: 0.00001  dbSNP: rs766780497
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556555 SCV000647893 likely benign Syndromic X-linked intellectual disability Raymond type 2017-06-12 criteria provided, single submitter clinical testing

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