ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3984C>T (p.Val1328=)

gnomAD frequency: 0.00019  dbSNP: rs182468850
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082551 SCV000114593 likely benign not specified 2012-10-18 criteria provided, single submitter clinical testing
Invitae RCV000472878 SCV000557655 benign Autosomal recessive polycystic kidney disease 2024-02-01 criteria provided, single submitter clinical testing
Counsyl RCV000472878 SCV000793818 likely benign Autosomal recessive polycystic kidney disease 2017-11-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000472878 SCV002080971 likely benign Autosomal recessive polycystic kidney disease 2017-05-10 no assertion criteria provided clinical testing

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