ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.270A>G (p.Thr90=)

dbSNP: rs886044598
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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) RCV000373343 SCV000345625 uncertain significance not provided 2018-08-16 criteria provided, single submitter clinical testing
Invitae RCV001437607 SCV001640465 likely benign Autosomal recessive polycystic kidney disease 2023-09-08 criteria provided, single submitter clinical testing

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