ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.333C>T (p.Phe111=)

gnomAD frequency: 0.00036  dbSNP: rs145815264
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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) RCV000597760 SCV000706488 uncertain significance not provided 2017-09-08 criteria provided, single submitter clinical testing
Invitae RCV001080377 SCV001007902 benign Autosomal recessive polycystic kidney disease 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001080377 SCV002083416 likely benign Autosomal recessive polycystic kidney disease 2018-07-03 no assertion criteria provided clinical testing

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