ClinVar Miner

Submissions for variant NM_003620.4(PPM1D):c.1435G>A (p.Ala479Thr)

gnomAD frequency: 0.00026  dbSNP: rs142406693
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 RCV000863106 SCV001003707 benign not provided 2023-12-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000863106 SCV005075606 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing PPM1D: BP4, BS1

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