ClinVar Miner

Submissions for variant NM_000165.5(GJA1):c.1127G>A (p.Arg376Gln) (rs104893965)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000860936 SCV001001122 likely benign Oculodentodigital dysplasia, autosomal recessive 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000018513 SCV001314501 uncertain significance Hypoplastic left heart syndrome 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). 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 Clinical Services Laboratory,Illumina RCV001153228 SCV001314502 benign Oculodentodigital dysplasia 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001155824 SCV001317288 benign Syndactyly type 3 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
OMIM RCV000018513 SCV000038795 pathogenic Hypoplastic left heart syndrome 1 2001-08-08 no assertion criteria provided literature only
OMIM RCV000018514 SCV000038796 pathogenic Atrioventricular septal defect 3 2001-08-08 no assertion criteria provided literature only

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