ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7100C>T (p.Ser2367Phe)

gnomAD frequency: 0.00004  dbSNP: rs771932172
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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 RCV001289138 SCV001476753 uncertain significance not provided 2019-09-19 criteria provided, single submitter clinical testing
GeneDx RCV001289138 SCV002504311 likely benign not provided 2020-06-11 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796411 SCV005418952 uncertain significance Polycystic kidney disease, adult type criteria provided, single submitter clinical testing PM2+PS4_Supporting
Fulgent Genetics, Fulgent Genetics RCV004796411 SCV005638370 uncertain significance Polycystic kidney disease, adult type 2023-12-27 criteria provided, single submitter clinical testing

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