ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1929C>A (p.Thr643=)

gnomAD frequency: 0.00001  dbSNP: rs775144938
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 RCV000865595 SCV001006587 benign Autosomal recessive polycystic kidney disease 2024-01-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV000865595 SCV002081054 likely benign Autosomal recessive polycystic kidney disease 2018-10-11 no assertion criteria provided clinical testing

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