ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8022G>T (p.Leu2674=)

gnomAD frequency: 0.00017  dbSNP: rs755688912
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250865 SCV000315836 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726606 SCV000345798 uncertain significance not provided 2016-09-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001083857 SCV001008595 likely benign Autosomal recessive polycystic kidney disease 2025-01-12 criteria provided, single submitter clinical testing

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