ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.11806-7C>A

gnomAD frequency: 0.00003  dbSNP: rs779713133
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246177 SCV000307197 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000697459 SCV000826071 likely benign Nemaline myopathy 2 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000697459 SCV001461928 uncertain significance Nemaline myopathy 2 2020-01-24 no assertion criteria provided clinical testing

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