ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.2756G>C (p.Ser919Thr)

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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 RCV004980181 SCV005581583 uncertain significance Inborn genetic diseases 2024-07-30 criteria provided, single submitter clinical testing The c.2756G>C (p.S919T) alteration is located in exon 1 (coding exon 1) of the FREM2 gene. This alteration results from a G to C substitution at nucleotide position 2756, causing the serine (S) at amino acid position 919 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005006629 SCV005635192 uncertain significance Isolated cryptophthalmia; Fraser syndrome 2 2024-01-30 criteria provided, single submitter clinical testing

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