ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9154G>T (p.Asp3052Tyr)

gnomAD frequency: 0.00048  dbSNP: rs765526
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728276 SCV000855829 uncertain significance not provided 2018-06-05 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000728276 SCV000927775 uncertain significance not provided 2018-07-04 criteria provided, single submitter clinical testing
Invitae RCV001469642 SCV001673722 likely benign Autosomal recessive polycystic kidney disease 2024-01-29 criteria provided, single submitter clinical testing

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