ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5811C>G (p.Ser1937=)

gnomAD frequency: 0.00090  dbSNP: rs149623670
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712635 SCV000843152 benign not provided 2017-11-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499293 SCV002806446 likely benign Polycystic kidney disease, adult type 2021-07-27 criteria provided, single submitter clinical testing

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