ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.11037A>T (p.Ser3679=)

dbSNP: rs1204544455
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001579051 SCV001806443 uncertain significance Polycystic kidney disease 4 2021-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003771758 SCV004640263 likely benign Autosomal recessive polycystic kidney disease 2024-10-15 criteria provided, single submitter clinical testing

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