ClinVar Miner

Submissions for variant NM_003620.4(PPM1D):c.456C>T (p.Ala152=)

gnomAD frequency: 0.00475  dbSNP: rs149400522
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242616 SCV000309738 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000861218 SCV001001474 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487128 SCV002802221 likely benign Familial cancer of breast; Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 2021-08-10 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316403 SCV004017096 benign Familial cancer of breast 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000861218 SCV004145795 benign not provided 2024-03-01 criteria provided, single submitter clinical testing PPM1D: BP4, BS1, BS2

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