ClinVar Miner

Submissions for variant NM_020639.3(RIPK4):c.117G>A (p.Val39=)

gnomAD frequency: 0.01319  dbSNP: rs147023104
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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 RCV001139718 SCV001299899 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx RCV001564790 SCV001788005 likely benign not provided 2021-03-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001564790 SCV005206328 likely benign not provided criteria provided, single submitter not provided

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