ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.958C>T (p.Leu320=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003793432 SCV004581218 likely benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2024-08-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003793432 SCV005652787 uncertain significance Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2024-02-12 criteria provided, single submitter clinical testing

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