ClinVar Miner

Submissions for variant NM_001102608.3(COL6A6):c.5432A>T (p.His1811Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004437612 SCV004929990 uncertain significance not specified 2023-11-22 criteria provided, single submitter clinical testing The c.5432A>T (p.H1811L) alteration is located in exon 32 (coding exon 32) of the COL6A6 gene. This alteration results from a A to T substitution at nucleotide position 5432, causing the histidine (H) at amino acid position 1811 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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