ClinVar Miner

Submissions for variant NM_005765.3(ATP6AP2):c.225C>T (p.Thr75=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002967714 SCV003287342 likely benign Syndromic X-linked intellectual disability Hedera type 2023-11-27 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002967714 SCV003807180 uncertain significance Syndromic X-linked intellectual disability Hedera type 2022-11-12 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated

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