ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7084C>T (p.Gln2362Ter)

dbSNP: rs1057516221
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410291 SCV000485303 likely pathogenic Autosomal recessive polycystic kidney disease 2015-11-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV003463786 SCV004204776 likely pathogenic Polycystic kidney disease 4 2022-09-13 criteria provided, single submitter clinical testing

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