ClinVar Miner

Submissions for variant NM_018196.4(TMLHE):c.961_962del (p.Ile321fs)

dbSNP: rs782624357
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000210877 SCV000807254 pathogenic Epsilon-trimethyllysine hydroxylase deficiency 2017-09-01 criteria provided, single submitter clinical testing This variant was found once in our laboratory maternally inherited in a 4-year-old male with autism, developmental delay/regression, speech delay. This patient has since been published (PMID:25943046).
Mendelics RCV000210877 SCV002519877 pathogenic Epsilon-trimethyllysine hydroxylase deficiency 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000210877 SCV000267178 risk factor Epsilon-trimethyllysine hydroxylase deficiency 2016-07-27 no assertion criteria provided literature only

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