ClinVar Miner

Submissions for variant NM_207506.3(SAMD12):c.13+16544C>A

dbSNP: rs1827958407
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002266879 SCV002549015 uncertain significance Epilepsy, familial adult myoclonic, 1 2021-06-04 criteria provided, single submitter clinical testing

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