ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8673C>G (p.Arg2891=)

gnomAD frequency: 0.01291  dbSNP: rs116098879
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153708 SCV000203266 benign not specified 2014-01-14 criteria provided, single submitter clinical testing
Invitae RCV001082625 SCV000291343 benign Autosomal recessive polycystic kidney disease 2024-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000153708 SCV000699884 likely benign not specified 2019-09-06 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001082625 SCV001323388 benign Autosomal recessive polycystic kidney disease 2017-06-19 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 RCV001570075 SCV001794282 likely benign not provided 2021-05-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001082625 SCV002077970 benign Autosomal recessive polycystic kidney disease 2017-06-30 no assertion criteria provided clinical testing

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