ClinVar Miner

Submissions for variant NM_001382567.1(STIM1):c.15C>T (p.Val5=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002730618 SCV003016429 likely benign Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2022-06-25 criteria provided, single submitter clinical testing

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