ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5226G>A (p.Thr1742=)

gnomAD frequency: 0.00001  dbSNP: rs747933439
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Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000477505 SCV000557641 likely benign Autosomal recessive polycystic kidney disease 2024-09-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481492 SCV002799961 likely benign Polycystic kidney disease 4 2021-09-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000477505 SCV002078089 likely benign Autosomal recessive polycystic kidney disease 2020-11-05 no assertion criteria provided clinical testing

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