ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.2788-154T>C

gnomAD frequency: 0.97501  dbSNP: rs6498608
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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 RCV001549182 SCV001769284 benign Arterial calcification, generalized, of infancy, 2 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549183 SCV001769285 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549184 SCV001769286 benign Pseudoxanthoma elasticum, forme fruste 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001615300 SCV001838283 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001615300 SCV005290278 benign not provided criteria provided, single submitter not provided

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