ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1424A>T (p.His475Leu)

gnomAD frequency: 0.00016  dbSNP: rs151187637
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000513133 SCV000345791 uncertain significance not provided 2016-09-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000502001 SCV000592961 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum 2016-08-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000513133 SCV000608756 uncertain significance not provided 2017-06-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765256 SCV000896509 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000513133 SCV001628313 likely benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816517 SCV005072842 uncertain significance Retinal dystrophy 2022-01-01 no assertion criteria provided clinical testing

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