ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.828G>A (p.Glu276=)

gnomAD frequency: 0.00001  dbSNP: rs727504806
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Total submissions: 2
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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 RCV000156133 SCV000205847 likely benign not specified 2013-11-06 criteria provided, single submitter clinical testing Glu276Glu 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002516149 SCV002929225 likely benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2023-12-18 criteria provided, single submitter clinical testing

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