ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=)

gnomAD frequency: 0.00016  dbSNP: rs138989655
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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) RCV000082544 SCV000114586 uncertain significance not provided 2018-08-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000306360 SCV000464097 uncertain significance Autosomal recessive polycystic kidney disease 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000306360 SCV001001374 likely benign Autosomal recessive polycystic kidney disease 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001449949 SCV001653460 likely benign Polycystic kidney disease 4 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000082544 SCV001816603 likely benign not provided 2020-09-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV000306360 SCV001459393 likely benign Autosomal recessive polycystic kidney disease 2020-04-30 no assertion criteria provided clinical testing

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