ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8302+12T>A

gnomAD frequency: 0.45597  dbSNP: rs1571084
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082579 SCV000114621 benign not specified 2015-10-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000082579 SCV000315842 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000361154 SCV000464052 benign 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000361154 SCV001721425 benign Autosomal recessive polycystic kidney disease 2024-02-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001530408 SCV001745229 benign Polycystic kidney disease 4 2021-06-19 criteria provided, single submitter clinical testing
GeneDx RCV001682789 SCV001897065 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001530408 SCV002029988 benign Polycystic kidney disease 4 2021-09-05 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001291890 SCV000592903 benign Polycystic kidney disease no assertion criteria provided clinical testing The c.8302+12T>A, p.? variant was identified in 38.61% of 46763 control alleles in the Exome Aggregation Consortium (March 14, 2016). According to ACMG guidelines for variant classification based on allele frequency, category BA1, this variant is considered benign and has not been further reviewed (Richards 2015).
Natera, Inc. RCV000361154 SCV002077987 benign Autosomal recessive polycystic kidney disease 2018-04-12 no assertion criteria provided clinical testing

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