ClinVar Miner

Submissions for variant NM_003628.6(PKP4):c.2175C>T (p.Ile725=)

gnomAD frequency: 0.00872  dbSNP: rs112890651
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000968932 SCV001116416 benign not provided 2018-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029935 SCV002726687 likely benign not specified 2022-05-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics RCV000968932 SCV005239008 benign not provided criteria provided, single submitter not provided

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