ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.5986A>G (p.Ile1996Val)

gnomAD frequency: 0.00012  dbSNP: rs771271966
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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 RCV002028364 SCV002283569 benign not provided 2024-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004612088 SCV005110354 uncertain significance Inborn genetic diseases 2024-03-19 criteria provided, single submitter clinical testing The c.5986A>G (p.I1996V) alteration is located in exon 73 (coding exon 73) of the COL7A1 gene. This alteration results from a A to G substitution at nucleotide position 5986, causing the isoleucine (I) at amino acid position 1996 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV002028364 SCV005189449 uncertain significance not provided criteria provided, single submitter not provided

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