ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.6462T>G (p.Val2154=)

dbSNP: rs878852998
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224422 SCV000280735 uncertain significance not provided 2015-12-14 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV002516220 SCV003341163 likely benign Autosomal recessive polycystic kidney disease 2022-04-13 criteria provided, single submitter clinical testing

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