ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3828G>A (p.Arg1276=)

dbSNP: rs1373102999
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734496 SCV000862646 uncertain significance not provided 2018-07-25 criteria provided, single submitter clinical testing
Invitae RCV001078959 SCV001089123 likely benign Autosomal recessive polycystic kidney disease 2022-01-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001078959 SCV001464890 uncertain significance Autosomal recessive polycystic kidney disease 2020-06-30 no assertion criteria provided clinical testing

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