ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.6547A>G (p.Thr2183Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003143413 SCV003828371 uncertain significance not provided 2020-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV003358154 SCV004063967 uncertain significance Inborn genetic diseases 2023-06-16 criteria provided, single submitter clinical testing The c.6547A>G (p.T2183A) alteration is located in exon 9 (coding exon 9) of the FREM2 gene. This alteration results from a A to G substitution at nucleotide position 6547, causing the threonine (T) at amino acid position 2183 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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