ClinVar Miner

Submissions for variant NM_001100913.3(PACS2):c.587-4G>C

dbSNP: rs782379339
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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 RCV003698853 SCV004468352 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252098 SCV001427847 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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