ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8195G>A (p.Arg2732Gln)

gnomAD frequency: 0.00007  dbSNP: rs78185588
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756502 SCV000884333 likely benign not provided 2017-05-19 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000756502 SCV001475271 likely benign not provided 2020-08-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003303229 SCV003993164 likely benign Inborn genetic diseases 2023-06-07 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.

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