ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8813C>T (p.Thr2938Met)

gnomAD frequency: 0.00005  dbSNP: rs776068047
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729799 SCV000857489 uncertain significance not provided 2017-10-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493316 SCV002782850 uncertain significance Polycystic kidney disease 4 2021-10-05 criteria provided, single submitter clinical testing

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