ClinVar Miner

Submissions for variant NM_002709.3(PPP1CB):c.53-9G>A

gnomAD frequency: 0.00172  dbSNP: rs368197884
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000924000 SCV001069501 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000924000 SCV001815362 likely benign not provided 2019-09-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495548 SCV002803513 likely benign Noonan syndrome-like disorder with loose anagen hair 2 2022-05-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970517 SCV004781991 benign PPP1CB-related disorder 2019-10-28 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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