ClinVar Miner

Submissions for variant NM_005032.7(PLS3):c.1242T>C (p.Pro414=)

gnomAD frequency: 0.12327  dbSNP: rs2108099
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000610115 SCV000728735 benign not specified 2017-09-15 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 RCV002064353 SCV002451595 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002064353 SCV005277938 benign not provided criteria provided, single submitter not provided

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