ClinVar Miner

Submissions for variant NM_016032.4(ZDHHC9):c.674+9C>T

gnomAD frequency: 0.00009  dbSNP: rs376385410
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000646767 SCV000768552 benign Syndromic X-linked intellectual disability Raymond type 2024-11-07 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702538 SCV001927761 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727788 SCV001969700 likely benign not provided no assertion criteria provided clinical testing

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