ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.1524C>T (p.Val508=)

gnomAD frequency: 0.00009  dbSNP: rs182439983
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001114686 SCV001272589 uncertain significance Cutis laxa with osteodystrophy 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). 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.
GeneDx RCV001561688 SCV001784334 likely benign not provided 2020-03-13 criteria provided, single submitter clinical testing
Invitae RCV002069848 SCV002458233 likely benign ALG9 congenital disorder of glycosylation 2023-12-17 criteria provided, single submitter clinical testing

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