ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3432C>T (p.His1144=)

dbSNP: rs376881116
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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) RCV000734593 SCV000862747 uncertain significance not provided 2018-08-03 criteria provided, single submitter clinical testing
Invitae RCV001455470 SCV001659230 likely benign Autosomal recessive polycystic kidney disease 2024-01-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001455470 SCV002080995 likely benign Autosomal recessive polycystic kidney disease 2019-03-25 no assertion criteria provided clinical testing

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