ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2017C>G (p.Pro673Ala)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003326932 SCV004033444 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing PKD1: BP4
Ambry Genetics RCV004661634 SCV005147122 likely benign Inborn genetic diseases 2024-05-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003906697 SCV004728563 benign PKD1-related disorder 2022-12-09 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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