ClinVar Miner

Submissions for variant NM_005502.4(ABCA1):c.5347G>T (p.Val1783Leu)

dbSNP: rs780534377
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662056 SCV000784392 uncertain significance Tangier disease 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662057 SCV000784393 uncertain significance Hypercholesterolemia, familial, 1 2018-03-05 criteria provided, single submitter clinical testing

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