ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2291C>T (p.Thr764Ile)

gnomAD frequency: 0.00002  dbSNP: rs190315828
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820183 SCV000960884 likely benign Autosomal recessive polycystic kidney disease 2023-12-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV000820183 SCV002081034 uncertain significance Autosomal recessive polycystic kidney disease 2017-10-16 no assertion criteria provided clinical testing

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