ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.608C>T (p.Thr203Met)

dbSNP: rs281875327
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990067 SCV001140847 likely pathogenic Autosomal dominant nonsyndromic hearing loss 20 2019-05-28 criteria provided, single submitter clinical testing
GeneReviews RCV002068712 SCV002496175 not provided Baraitser-Winter syndrome no assertion provided literature only Assoc w/severe phenotype [Vontell et al 2019, Chacon-Camacho et al 2020]

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