ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.124-6C>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003017777 SCV003304545 likely benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2023-10-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003017776 SCV003552117 uncertain significance Inborn genetic diseases 2022-08-05 criteria provided, single submitter clinical testing The c.124-6C>T intronic alteration consists of a C to T substitution 6 nucleotides before coding exon 2 in the ACTG1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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