ClinVar Miner

Submissions for variant NM_001183.6(ATP6AP1):c.971+10G>A

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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 RCV002843740 SCV003221799 likely benign not provided 2022-09-30 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003225772 SCV003807832 uncertain significance Immunodeficiency 47 2022-12-16 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated

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