ClinVar Miner

Submissions for variant GRCh37/hg19 2q37.3(chr2:238234151-238234418)x0

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Solve-RD Consortium RCV004767728 SCV005200707 likely pathogenic Dystonia 27 2024-06-01 no assertion criteria provided provider interpretation This CNV was confirmed by the submitting clinician to impact a gene that corresponds with the phenotype of the affected individual, and thus deemed to be causative for their condition.

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