ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2244G>A (p.Ala748=)

gnomAD frequency: 0.00002  dbSNP: rs886043022
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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) RCV000339635 SCV000337993 uncertain significance not provided 2015-12-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487223 SCV002790694 uncertain significance Polycystic kidney disease 4 2021-12-25 criteria provided, single submitter clinical testing
Invitae RCV002518960 SCV003302571 likely benign Autosomal recessive polycystic kidney disease 2023-10-15 criteria provided, single submitter clinical testing

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