ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8174-18T>A

gnomAD frequency: 0.01154  dbSNP: rs111383080
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153710 SCV000203268 benign not specified 2014-01-14 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000153710 SCV000315840 benign not specified criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000153710 SCV000917999 benign not specified 2017-09-05 criteria provided, single submitter clinical testing Variant summary: The PKHD1 c.8174-18T>A variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 358/105718 control chromosomes (9 homozygotes), predominantly observed in the African subpopulation at a frequency of 0.03505 (324/9244). This frequency is about 5 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.
Invitae RCV001274774 SCV001725257 benign Autosomal recessive polycystic kidney disease 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001564981 SCV001788233 likely benign not provided 2019-02-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498732 SCV002807813 likely benign Polycystic kidney disease 4 2021-12-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274774 SCV001459178 benign Autosomal recessive polycystic kidney disease 2020-09-16 no assertion criteria provided clinical testing

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