ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.4450G>A (p.Ala1484Thr)

gnomAD frequency: 0.00039  dbSNP: rs144905283
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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) RCV000592486 SCV000708172 uncertain significance not provided 2017-05-02 criteria provided, single submitter clinical testing
Invitae RCV001400967 SCV001602778 likely benign Autosomal recessive polycystic kidney disease 2023-12-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001400967 SCV002078106 likely benign Autosomal recessive polycystic kidney disease 2018-06-25 no assertion criteria provided clinical testing

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