ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.1043G>A (p.Arg348Gln)

gnomAD frequency: 0.00019  dbSNP: rs200570283
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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 RCV001469348 SCV001673428 likely benign not provided 2024-05-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002561303 SCV003543046 uncertain significance Inborn genetic diseases 2021-08-17 criteria provided, single submitter clinical testing The c.1043G>A (p.R348Q) alteration is located in exon 8 (coding exon 8) of the COL7A1 gene. This alteration results from a G to A substitution at nucleotide position 1043, causing the arginine (R) at amino acid position 348 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001826299 SCV002079307 likely benign Epidermolysis bullosa dystrophica 2019-12-27 no assertion criteria provided clinical testing

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