ClinVar Miner

Submissions for variant NM_000751.3(CHRND):c.1127G>A (p.Arg376Gln)

gnomAD frequency: 0.00006  dbSNP: rs749866545
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000642118 SCV000763771 likely benign Lethal multiple pterygium syndrome 2024-01-05 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000731206 SCV000858992 uncertain significance not provided 2018-01-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000642118 SCV001298558 uncertain significance Lethal multiple pterygium syndrome 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.
Illumina Laboratory Services, Illumina RCV001138498 SCV001298559 uncertain significance Congenital myasthenic syndrome 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.
Revvity Omics, Revvity RCV000731206 SCV003832122 uncertain significance not provided 2020-12-15 criteria provided, single submitter clinical testing

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