ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1214C>T (p.Ala405Val)

dbSNP: rs115663615
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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 RCV001331786 SCV001523899 uncertain significance Arterial calcification, generalized, of infancy, 2 2019-06-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV002499653 SCV002775374 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2021-11-10 criteria provided, single submitter clinical testing

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