ClinVar Miner

Submissions for variant NM_001352005.2(NTM):c.527-4G>A

gnomAD frequency: 0.00010  dbSNP: rs375999981
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680599 SCV000808027 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing

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