ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1201C>A (p.His401Asn)

gnomAD frequency: 0.00013  dbSNP: rs192769565
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728806 SCV000856422 uncertain significance not provided 2018-05-30 criteria provided, single submitter clinical testing
Invitae RCV000813285 SCV000953641 likely benign Autosomal recessive polycystic kidney disease 2024-01-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003130027 SCV003808432 uncertain significance Polycystic kidney disease 4 2022-08-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV000813285 SCV001463324 uncertain significance Autosomal recessive polycystic kidney disease 2020-09-16 no assertion criteria provided clinical testing

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