ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.237C>T (p.Gly79=)

gnomAD frequency: 0.00044  dbSNP: rs148094180
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000897962 SCV001042140 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001102573 SCV001259258 uncertain significance Primary hyperoxaluria type 3 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Natera, Inc. RCV001102573 SCV001464778 likely benign Primary hyperoxaluria type 3 2020-08-24 no assertion criteria provided clinical testing

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