ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.8007G>C (p.Gln2669His)

gnomAD frequency: 0.00007  dbSNP: rs369881673
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001366446 SCV001562748 benign not provided 2024-07-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004978229 SCV005569430 uncertain significance Inborn genetic diseases 2024-10-08 criteria provided, single submitter clinical testing The c.8007G>C (p.Q2669H) alteration is located in exon 108 (coding exon 108) of the COL7A1 gene. This alteration results from a G to C substitution at nucleotide position 8007, causing the glutamine (Q) at amino acid position 2669 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001278915 SCV001465961 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-07-02 no assertion criteria provided clinical testing

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