ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5688G>A (p.Thr1896=)

gnomAD frequency: 0.00001  dbSNP: rs1050674532
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001460808 SCV001664688 likely benign Autosomal recessive polycystic kidney disease 2023-06-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001460808 SCV002078072 likely benign Autosomal recessive polycystic kidney disease 2020-08-28 no assertion criteria provided clinical testing

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