ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.8569G>A (p.Glu2857Lys)

dbSNP: rs372166543
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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 RCV002537752 SCV003482742 likely benign not provided 2024-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003166601 SCV003889551 uncertain significance Inborn genetic diseases 2023-01-11 criteria provided, single submitter clinical testing The c.8569G>A (p.E2857K) alteration is located in exon 116 (coding exon 116) of the COL7A1 gene. This alteration results from a G to A substitution at nucleotide position 8569, causing the glutamic acid (E) at amino acid position 2857 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001277577 SCV001464537 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-10-28 no assertion criteria provided clinical testing

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