ClinVar Miner

Submissions for variant NM_018444.4(PDP1):c.1431C>T (p.Asn477=)

gnomAD frequency: 0.00076  dbSNP: rs147477305
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127434 SCV000170999 benign not specified 2012-11-28 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.
Invitae RCV002055746 SCV002384629 likely benign not provided 2023-06-16 criteria provided, single submitter clinical testing

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