ClinVar Miner

Submissions for variant NM_001106.4(ACVR2B):c.119G>A (p.Arg40His)

gnomAD frequency: 0.00398  dbSNP: rs121434437
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243624 SCV000306607 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000007261 SCV000443345 likely benign Heterotaxy, visceral, 4, autosomal 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000007261 SCV000770523 benign Heterotaxy, visceral, 4, autosomal 2023-11-22 criteria provided, single submitter clinical testing
Mendelics RCV000007261 SCV001136441 likely benign Heterotaxy, visceral, 4, autosomal 2019-05-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000007261 SCV002807642 benign Heterotaxy, visceral, 4, autosomal 2021-10-07 criteria provided, single submitter clinical testing
OMIM RCV000007261 SCV000027457 pathogenic Heterotaxy, visceral, 4, autosomal 1999-01-01 no assertion criteria provided literature only

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