ClinVar Miner

Submissions for variant NM_001102608.3(COL6A6):c.2630A>T (p.Gln877Leu)

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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 RCV004219734 SCV003734757 uncertain significance not specified 2021-09-01 criteria provided, single submitter clinical testing The c.2630A>T (p.Q877L) alteration is located in exon 6 (coding exon 6) of the COL6A6 gene. This alteration results from a A to T substitution at nucleotide position 2630, causing the glutamine (Q) at amino acid position 877 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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