ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.877C>T (p.Leu293=)

gnomAD frequency: 0.00078  dbSNP: rs143205514
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000873651 SCV001015684 benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001655628 SCV001865993 benign not provided 2018-06-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253654 SCV002524442 benign Baraitser-winter syndrome 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253653 SCV002524443 benign Autosomal dominant nonsyndromic hearing loss 20 2021-12-05 criteria provided, single submitter clinical testing

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