ClinVar Miner

Submissions for variant NM_018444.4(PDP1):c.717C>G (p.Ala239=)

gnomAD frequency: 0.00070  dbSNP: rs150112501
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421463 SCV000514102 benign not specified 2015-09-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000881027 SCV001024164 likely benign not provided 2024-01-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000881027 SCV004156010 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing PDP1: BP4, BP7

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