ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.219G>A (p.Met73Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005013865 SCV005638680 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2024-02-12 criteria provided, single submitter clinical testing

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