ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.909C>T (p.Thr303=)

gnomAD frequency: 0.00003  dbSNP: rs187127467
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150134 SCV000196996 likely benign not specified 2014-01-09 criteria provided, single submitter clinical testing Thr303Thr in Exon 5 of ACTG1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 0.04% (1/2178) of ch romosomes by the 1000 Genomes Project (dbSNP rs187127467).
GeneDx RCV001719927 SCV000516419 benign not provided 2018-12-14 criteria provided, single submitter clinical testing
Invitae RCV000878537 SCV001021458 benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2024-01-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253243 SCV002524440 benign Baraitser-winter syndrome 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253242 SCV002524441 benign Autosomal dominant nonsyndromic hearing loss 20 2021-12-05 criteria provided, single submitter clinical testing

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