ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.3952G>A (p.Ala1318Thr)

dbSNP: rs2046496590
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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 RCV001335747 SCV001528976 uncertain significance Arterial calcification, generalized, of infancy, 2 2018-04-30 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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