ClinVar Miner

Submissions for variant NM_152722.5(HEPACAM):c.665C>T (p.Pro222Leu)

dbSNP: rs1947170395
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332975 SCV001525444 uncertain significance Megalencephalic leukoencephalopathy with subcortical cysts 2A 2020-05-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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