ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2780T>C (p.Val927Ala)

gnomAD frequency: 0.00002  dbSNP: rs776051361
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001347534 SCV001541800 benign not provided 2024-02-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002547078 SCV003742288 uncertain significance Inborn genetic diseases 2022-06-03 criteria provided, single submitter clinical testing The c.2780T>C (p.V927A) alteration is located in exon 36 (coding exon 36) of the COL11A1 gene. This alteration results from a T to C substitution at nucleotide position 2780, causing the valine (V) at amino acid position 927 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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