ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.254C>T (p.Ala85Val)

gnomAD frequency: 0.00001  dbSNP: rs748119074
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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 RCV001334204 SCV001526988 uncertain significance Amelocerebrohypohidrotic syndrome 2018-11-18 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001334204 SCV001533918 uncertain significance Amelocerebrohypohidrotic syndrome 2021-08-27 criteria provided, single submitter clinical testing

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