ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7976C>T (p.Pro2659Leu)

gnomAD frequency: 0.00001  dbSNP: rs776654447
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001808215 SCV002058815 uncertain significance Polycystic kidney disease 4 2022-01-03 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: 0.000012, PM2_M). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
Fulgent Genetics, Fulgent Genetics RCV001808215 SCV002787268 uncertain significance Polycystic kidney disease 4 2021-07-16 criteria provided, single submitter clinical testing

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