ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1536C>T (p.Tyr512=)

gnomAD frequency: 0.00093  dbSNP: rs138049763
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000880671 SCV001023788 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001115090 SCV001273035 uncertain significance Autosomal recessive osteopetrosis 1 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.
CeGaT Center for Human Genetics Tuebingen RCV000880671 SCV004184163 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing TCIRG1: BP4, BP7
Natera, Inc. RCV001115090 SCV001452906 likely benign Autosomal recessive osteopetrosis 1 2020-04-16 no assertion criteria provided clinical testing

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