ClinVar Miner

Submissions for variant NM_004736.4(XPR1):c.653T>C (p.Leu218Ser)

dbSNP: rs786205904
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000172882 SCV000223872 pathogenic Basal ganglia calcification, idiopathic, 6 2015-06-01 no assertion criteria provided literature only

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