ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.363+5G>A

gnomAD frequency: 0.00061  dbSNP: rs116329164
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003103877 SCV001016217 likely benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2025-01-06 criteria provided, single submitter clinical testing
GeneDx RCV000874088 SCV001936228 benign not provided 2018-10-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253656 SCV002524486 benign Baraitser-winter syndrome 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253655 SCV002524487 benign Autosomal dominant nonsyndromic hearing loss 20 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000874088 SCV004144617 benign not provided 2023-05-01 criteria provided, single submitter clinical testing ACTG1: BP4, BS1, BS2

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