ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.985-5T>C

gnomAD frequency: 0.00176  dbSNP: rs370546734
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000283217 SCV000338599 benign not specified 2016-01-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000283217 SCV000593027 likely benign not specified 2017-02-14 criteria provided, single submitter clinical testing
GeneDx RCV001718580 SCV000725727 benign not provided 2019-06-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000650172 SCV000772009 benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2025-01-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253367 SCV002524432 benign Baraitser-winter syndrome 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253366 SCV002524433 benign Autosomal dominant nonsyndromic hearing loss 20 2021-12-05 criteria provided, single submitter clinical testing

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