ClinVar Miner

Submissions for variant NM_001393500.2(TOMT):c.515_518dup (p.Ser174fs)

dbSNP: rs797044907
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000190734 SCV000244175 pathogenic Inborn genetic diseases 2013-06-06 criteria provided, single submitter clinical testing
Suma Genomics RCV001449954 SCV001653498 pathogenic Autosomal recessive nonsyndromic hearing loss 63 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001449954 SCV002017190 pathogenic Autosomal recessive nonsyndromic hearing loss 63 2019-07-18 criteria provided, single submitter clinical testing

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