ClinVar Miner

Submissions for variant NM_020639.3(RIPK4):c.*275T>C

gnomAD frequency: 0.05243  dbSNP: rs73369674
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000325157 SCV000436094 likely benign Bartsocas-Papas syndrome 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV001636952 SCV001850365 benign not provided 2020-01-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001636952 SCV005206306 likely benign not provided criteria provided, single submitter not provided

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