ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2265G>A (p.Pro755=)

gnomAD frequency: 0.00002  dbSNP: rs375603741
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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) RCV000343380 SCV000336516 uncertain significance not provided 2015-10-23 criteria provided, single submitter clinical testing
Invitae RCV001083769 SCV001009072 likely benign Autosomal recessive polycystic kidney disease 2024-01-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001083769 SCV001321870 uncertain significance Autosomal recessive polycystic kidney disease 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab RCV001449587 SCV001652738 likely benign Polycystic kidney disease 4 2021-05-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977763 SCV004792147 likely benign PKHD1-related disorder 2019-03-25 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001083769 SCV001463502 uncertain significance Autosomal recessive polycystic kidney disease 2018-08-15 no assertion criteria provided clinical testing

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