ClinVar Miner

Submissions for variant NM_000165.5(GJA1):c.*1018_*1021del

dbSNP: rs375943953
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000321742 SCV000459895 likely benign Hypoplastic left heart syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000360032 SCV000459896 likely benign Syndactyly 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000267634 SCV000459897 likely benign Oculodentodigital dysplasia 2016-06-14 criteria provided, single submitter clinical testing

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