ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.148A>G (p.Ile50Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002290093 SCV002581787 uncertain significance Pseudoxanthoma elasticum, forme fruste 2022-08-22 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817006 SCV005069423 uncertain significance Optic atrophy 2023-01-01 no assertion criteria provided clinical testing

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