ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7992C>T (p.Ile2664=)

dbSNP: rs537012440
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002294 SCV001160179 benign Polycystic kidney disease, adult type 2018-12-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001002294 SCV002807983 likely benign Polycystic kidney disease, adult type 2021-10-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705998 SCV005217057 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003953427 SCV004775938 likely benign PKD1-related disorder 2019-04-09 no assertion criteria provided 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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