ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9693A>C (p.Arg3231Ser)

dbSNP: rs1194740215
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002052188 SCV002318738 uncertain significance Polycystic kidney disease 4 2022-03-22 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.0000040). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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