ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.6333-8_6333-7del

dbSNP: rs138161138
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224004 SCV000281093 benign not provided 2015-09-29 criteria provided, single submitter clinical testing
Invitae RCV000232929 SCV000291337 benign Autosomal recessive polycystic kidney disease 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000082565 SCV000315821 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000082565 SCV000331166 benign not specified 2016-06-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000232929 SCV000464074 likely benign Autosomal recessive polycystic kidney disease 2016-06-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000224004 SCV000699872 benign not provided 2016-10-31 criteria provided, single submitter clinical testing Variant summary: The PKHD1 c.6333-8_6333-7delTT variant involves the deletion of two non-conserved intronic nucleotides. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 1283/110896 control chromosomes (75 homozygotes), predominantly observed in the African subpopulation at a frequency of 0.1271383 (1204/9470). This frequency is about 18 times the estimated maximal expected allele frequency of a pathogenic PKHD1 variant (0.0070711), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
GeneDx RCV000224004 SCV001894656 benign not provided 2019-08-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490729 SCV002804360 likely benign Polycystic kidney disease 4 2021-07-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV000232929 SCV002078052 benign Autosomal recessive polycystic kidney disease 2017-03-29 no assertion criteria provided clinical testing

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