ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys)

gnomAD frequency: 0.00006  dbSNP: rs141081295
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664770 SCV000788781 uncertain significance Autosomal recessive polycystic kidney disease 2017-01-06 criteria provided, single submitter clinical testing
Invitae RCV000664770 SCV001000843 likely benign Autosomal recessive polycystic kidney disease 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000664770 SCV001324926 benign Autosomal recessive polycystic kidney disease 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Revvity Omics, Revvity RCV003129981 SCV003808417 uncertain significance Polycystic kidney disease 4 2019-12-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV000664770 SCV001455236 likely benign Autosomal recessive polycystic kidney disease 2020-01-08 no assertion criteria provided clinical testing

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