ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.3882+85C>T

gnomAD frequency: 0.97343  dbSNP: rs3896244
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001549151 SCV001769253 benign Arterial calcification, generalized, of infancy, 2 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549152 SCV001769254 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549153 SCV001769255 benign Pseudoxanthoma elasticum, forme fruste 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001694096 SCV001913199 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001694096 SCV005290263 benign not provided criteria provided, single submitter not provided

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