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

gnomAD frequency: 0.00475  dbSNP: rs149400522

Total submissions: 7

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
Labcorp Genetics (formerly Invitae), Labcorp	RCV000861218	SCV001001474	benign	not provided	2025-01-28	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	2025-02-01	criteria provided, single submitter	clinical testing	PPM1D: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000861218	SCV005252871	benign	not provided		criteria provided, single submitter	not provided
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV005235233	SCV005881091	benign	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	2025-02-01	criteria provided, single submitter	clinical testing