ClinVar Miner

Submissions for variant NM_003701.4(TNFSF11):c.435G>A (p.Ala145=)

gnomAD frequency: 0.00003  dbSNP: rs775866494
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001115163 SCV001273118 uncertain significance Autosomal recessive osteopetrosis 2 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.
Invitae RCV002069854 SCV002364860 likely benign not provided 2023-08-29 criteria provided, single submitter clinical testing

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