ClinVar Miner

Submissions for variant NM_007262.5(PARK7):c.501A>G (p.Ala167=)

gnomAD frequency: 0.00099  dbSNP: rs71653621
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000878685 SCV001021625 benign Autosomal recessive early-onset Parkinson disease 7 2024-01-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000878685 SCV001255802 uncertain significance Autosomal recessive early-onset Parkinson disease 7 2017-04-27 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen RCV003222163 SCV003916037 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing PARK7: BP4, BP7

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