ClinVar Miner

Submissions for variant NM_000165.5(GJA1):c.837G>A (p.Ser279=)

gnomAD frequency: 0.00086  dbSNP: rs67407537
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000306229 SCV000459829 likely 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000365711 SCV000459830 likely benign 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000271108 SCV000459831 likely 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000862762 SCV001003313 benign Oculodentodigital dysplasia, autosomal recessive 2023-12-20 criteria provided, single submitter clinical testing
GeneDx RCV001548051 SCV001767900 likely benign not provided 2020-10-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001548051 SCV005225213 likely benign not provided criteria provided, single submitter not provided

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