ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.5851C>T (p.Arg1951Cys)

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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 RCV004980187 SCV005581600 uncertain significance Inborn genetic diseases 2024-08-01 criteria provided, single submitter clinical testing The c.5851C>T (p.R1951C) alteration is located in exon 6 (coding exon 6) of the FREM2 gene. This alteration results from a C to T substitution at nucleotide position 5851, causing the arginine (R) at amino acid position 1951 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005006634 SCV005634775 uncertain significance Isolated cryptophthalmia; Fraser syndrome 2 2024-06-18 criteria provided, single submitter clinical testing

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