ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4302C>T (p.Ile1434=)

gnomAD frequency: 0.00982  dbSNP: rs78509585
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246134 SCV000305740 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757619 SCV000885915 benign Polycystic kidney disease, adult type 2019-11-02 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000246134 SCV001476607 benign not specified 2020-08-18 criteria provided, single submitter clinical testing
GeneDx RCV001682991 SCV001902582 benign not provided 2019-10-29 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001292037 SCV001480835 benign Polycystic kidney disease no assertion criteria provided clinical testing

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