ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.2240+1G>A

dbSNP: rs1553927783
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516699 SCV000614569 pathogenic not provided 2020-06-18 criteria provided, single submitter clinical testing The variant disrupts a canonical splice site, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and not found in general population data.
Fulgent Genetics, Fulgent Genetics RCV002497005 SCV002775475 pathogenic Polycystic kidney disease 2 2022-02-18 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000516699 SCV000809152 pathogenic not provided 2018-09-16 no assertion criteria provided research

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