ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.3922_3930del (p.Ala1308_Phe1310del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004737751 SCV005365922 uncertain significance CAMTA1-related disorder 2024-09-20 no assertion criteria provided clinical testing The CAMTA1 c.3922_3930del9 variant is predicted to result in an in-frame deletion (p.Ala1308_Phe1310del). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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