ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8640G>A (p.Ser2880=)

gnomAD frequency: 0.00014  dbSNP: rs199988586
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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 RCV000712661 SCV000843180 benign not provided 2018-05-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507249 SCV002806295 benign Polycystic kidney disease, adult type 2021-09-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000712661 SCV004142832 benign not provided 2022-09-01 criteria provided, single submitter clinical testing PKD1: BS1, BS2

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