ClinVar Miner

Submissions for variant NM_001606.5(ABCA2):c.4108C>T (p.Gln1370Ter)

dbSNP: rs2131443090
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Provincial Medical Genetics Program of British Columbia, University of British Columbia RCV002071017 SCV002320798 likely pathogenic Intellectual developmental disorder with poor growth and with or without seizures or ataxia 2022-01-01 criteria provided, single submitter clinical testing

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