ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7957C>T (p.Leu2653=)

dbSNP: rs556212333
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591999 SCV000706420 uncertain significance not provided 2017-02-17 criteria provided, single submitter clinical testing
Invitae RCV001477670 SCV001681916 likely benign Autosomal recessive polycystic kidney disease 2024-01-10 criteria provided, single submitter clinical testing

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