ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3600G>A (p.Ala1200=)

gnomAD frequency: 0.00019  dbSNP: rs372882189
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712614 SCV000843131 benign not provided 2017-12-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499292 SCV002801850 benign Polycystic kidney disease, adult type 2021-07-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000712614 SCV004142895 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing PKD1: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000712614 SCV005290725 benign not provided criteria provided, single submitter not provided

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