ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.345+12T>C

dbSNP: rs759993107
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001671115 SCV001885083 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488460 SCV002798902 likely benign Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2021-07-28 criteria provided, single submitter clinical testing

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