ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5093A>G (p.Asn1698Ser)

gnomAD frequency: 0.00014  dbSNP: rs148108992
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 RCV000871562 SCV001013239 benign Autosomal recessive polycystic kidney disease 2024-01-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000871562 SCV001459383 likely benign Autosomal recessive polycystic kidney disease 2020-04-17 no assertion criteria provided clinical testing

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