ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=)

gnomAD frequency: 0.00769  dbSNP: rs140791735
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177672 SCV000229576 benign not specified 2015-03-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000206497 SCV000260369 benign Autosomal recessive polycystic kidney disease 2025-02-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000177672 SCV000315804 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000206497 SCV001320285 likely benign Autosomal recessive polycystic kidney disease 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV001582671 SCV001813581 likely benign not provided 2020-12-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503685 SCV002807401 likely benign Polycystic kidney disease 4 2021-07-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001582671 SCV005226142 likely benign not provided criteria provided, single submitter not provided
Department of Pathology and Laboratory Medicine, Sinai Health System RCV002503685 SCV005912480 benign Polycystic kidney disease 4 2022-10-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV000206497 SCV002080969 benign Autosomal recessive polycystic kidney disease 2017-05-11 no assertion criteria provided clinical testing

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