ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.1322A>G (p.Gln441Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002739119 SCV003739793 uncertain significance Inborn genetic diseases 2021-08-25 criteria provided, single submitter clinical testing The c.1322A>G (p.Q441R) alteration is located in exon 10 (coding exon 10) of the CCM2 gene. This alteration results from a A to G substitution at nucleotide position 1322, causing the glutamine (Q) at amino acid position 441 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004560085 SCV005049396 uncertain significance Cerebral cavernous malformation 2 2024-02-05 criteria provided, single submitter clinical testing

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