ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.528-1G>T

dbSNP: rs202190787
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV004574567 SCV005056347 likely pathogenic Polycystic kidney disease 4 2023-12-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV004574567 SCV005673179 likely pathogenic Polycystic kidney disease 4 2024-06-11 criteria provided, single submitter clinical testing

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