ClinVar Miner

Submissions for variant NM_004595.5(SMS):c.264+105A>G

gnomAD frequency: 0.02662  dbSNP: rs45451996
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002245107 SCV002513668 likely benign not provided 2021-05-16 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Breakthrough Genomics, Breakthrough Genomics RCV002245107 SCV005209140 likely benign not provided criteria provided, single submitter not provided

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