ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.4547C>T (p.Pro1516Leu)

gnomAD frequency: 0.00006  dbSNP: rs200278368
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734548 SCV000862698 uncertain significance not provided 2018-07-31 criteria provided, single submitter clinical testing
Invitae RCV001034185 SCV001197516 likely benign Autosomal recessive polycystic kidney disease 2024-01-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001034185 SCV001327546 uncertain significance Autosomal recessive polycystic kidney disease 2017-04-28 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 RCV001449925 SCV001653330 uncertain significance Polycystic kidney disease 4 2021-05-18 criteria provided, single submitter clinical testing

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