ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.3735+55del

dbSNP: rs56822940
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001549154 SCV001769256 benign Arterial calcification, generalized, of infancy, 2 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549155 SCV001769257 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549156 SCV001769258 benign Pseudoxanthoma elasticum, forme fruste 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001713031 SCV001945071 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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