ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3609T>C (p.Pro1203=)

gnomAD frequency: 0.00003  dbSNP: rs758960742
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001423748 SCV001626330 likely benign Autosomal recessive polycystic kidney disease 2024-03-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504699 SCV002805451 likely benign Polycystic kidney disease 4 2021-07-21 criteria provided, single submitter clinical testing

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