ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12139-1G>T

dbSNP: rs1596474257
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000992557 SCV001144956 likely pathogenic not provided 2019-07-17 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. Not found in the total gnomAD dataset, and the data is high quality (0/271858 chr).

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