ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.848T>C (p.Met283Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004819951 SCV005440592 uncertain significance Becker nevus syndrome; Baraitser-Winter syndrome 1; Developmental malformations-deafness-dystonia syndrome; Congenital smooth muscle hamartoma, with or without hemihypertrophy; ACTB-associated syndromic thrombocytopenia criteria provided, single submitter clinical testing PM2_Supporting+PS2_Supporting+PP3_Moderate+PP2

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