ClinVar Miner

Submissions for variant NM_024339.5(THOC6):c.537G>T (p.Arg179Ser)

dbSNP: rs2072804977
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336623 SCV001530053 uncertain significance THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 2018-03-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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