ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2986-15C>T

dbSNP: rs2855349
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243829 SCV000305714 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000999781 SCV000604745 benign Polycystic kidney disease, adult type 2020-02-20 criteria provided, single submitter clinical testing
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research RCV001254235 SCV001430226 benign Autosomal dominant polycystic kidney disease 2019-01-01 criteria provided, single submitter research
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001291867 SCV000592753 benign Polycystic kidney disease no assertion criteria provided clinical testing The c.2986-15C>T, p.? variant was identified in 5.3% of 6391 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).

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