ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4674G>A (p.Thr1558=)

gnomAD frequency: 0.06100  dbSNP: rs79884128
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249784 SCV000305744 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755336 SCV000604715 benign Polycystic kidney disease, adult type 2020-06-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000249784 SCV000614503 benign not specified 2017-07-20 criteria provided, single submitter clinical testing
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research RCV001254315 SCV001430267 benign Autosomal dominant polycystic kidney disease 2019-01-01 criteria provided, single submitter research
GeneDx RCV001640495 SCV001859400 benign not provided 2019-09-26 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001291900 SCV000592777 benign Polycystic kidney disease no assertion criteria provided clinical testing The c.4674G>A, p.Thr1558Thr variant was identified in7.57% of 9015 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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