ClinVar Miner

Submissions for variant NM_002860.4(ALDH18A1):c.-69CG[4]

dbSNP: rs200542959
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000367582 SCV000366304 likely benign Cutis Laxa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001840482 SCV002099613 likely benign not provided 2021-08-23 criteria provided, single submitter clinical testing

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