ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.2530A>G (p.Met844Val)

dbSNP: rs766811699
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000360722 SCV000331855 uncertain significance not provided 2018-08-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001134207 SCV001293940 uncertain significance Asphyxiating thoracic dystrophy 4 2017-09-05 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.
Illumina Laboratory Services, Illumina RCV001134208 SCV001293941 uncertain significance Nephronophthisis 12 2017-09-05 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001859543 SCV002156438 likely benign Jeune thoracic dystrophy; Nephronophthisis 2023-10-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487181 SCV002793498 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2021-11-05 criteria provided, single submitter clinical testing

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