ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5703C>T (p.Pro1901=)

gnomAD frequency: 0.00006  dbSNP: rs773475991
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506474 SCV000604789 likely benign not specified 2017-01-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915413 SCV004735615 likely benign PKD1-related condition 2021-05-11 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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