ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.978G>A (p.Lys326=)

gnomAD frequency: 0.00016  dbSNP: rs139339869
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000877122 SCV001019806 likely benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2024-01-14 criteria provided, single submitter clinical testing
GeneDx RCV001692313 SCV001914356 benign not provided 2019-01-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253660 SCV002524434 benign Baraitser-winter syndrome 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253659 SCV002524435 benign Autosomal dominant nonsyndromic hearing loss 20 2021-12-05 criteria provided, single submitter clinical testing

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