ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.105C>T (p.Val35=)

gnomAD frequency: 0.00048  dbSNP: rs11549193
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703749 SCV000523072 benign not provided 2020-06-22 criteria provided, single submitter clinical testing
Invitae RCV000873660 SCV001015694 likely benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2023-08-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253436 SCV002524506 benign Baraitser-winter syndrome 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253435 SCV002524507 benign Autosomal dominant nonsyndromic hearing loss 20 2021-12-05 criteria provided, single submitter clinical testing

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