ClinVar Miner

Submissions for variant NM_005502.4(ABCA1):c.5870A>C (p.Lys1957Thr)

gnomAD frequency: 0.00001  dbSNP: rs759114091
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000282431 SCV000476202 uncertain significance Tangier disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000335100 SCV000476203 uncertain significance Familial High Density Lipoprotein Deficiency 2016-06-14 criteria provided, single submitter clinical testing

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