ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.485C>T (p.Thr162Met)

dbSNP: rs2031771459
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330617 SCV001522356 uncertain significance Baraitser-winter syndrome 2 2019-09-10 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796607 SCV005416799 uncertain significance Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 criteria provided, single submitter clinical testing PM2_Supporting+PS4_Supporting+PP3_Moderate+PP2

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