ClinVar Miner

Submissions for variant NM_001100913.3(PACS2):c.1674G>A (p.Ala558=)

gnomAD frequency: 0.00006  dbSNP: rs375043527
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002082090 SCV002430578 benign not provided 2023-09-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002082090 SCV004699918 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing PACS2: BP4, BP7, BS1

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