ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.803-3T>C

gnomAD frequency: 0.00019  dbSNP: rs369438865
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000487853 SCV000575126 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
GeneDx RCV000487853 SCV000729126 likely benign not provided 2020-12-14 criteria provided, single submitter clinical testing
Invitae RCV003766732 SCV001017161 benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2023-07-25 criteria provided, single submitter clinical testing

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