ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1841T>C (p.Val614Ala)

gnomAD frequency: 0.44841  dbSNP: rs12931472
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PXE International RCV000499100 SCV000588975 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-03-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001520636 SCV001729789 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001520636 SCV001945063 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253465 SCV002525049 benign Arterial calcification, generalized, of infancy, 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000499100 SCV002525060 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253464 SCV002525071 benign Pseudoxanthoma elasticum, forme fruste 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001520636 SCV005290302 benign not provided criteria provided, single submitter not provided

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