ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.2503G>A (p.Glu835Lys)

gnomAD frequency: 0.00004  dbSNP: rs748398314
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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 RCV001373047 SCV001569747 likely benign not provided 2024-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002550164 SCV003749616 uncertain significance Inborn genetic diseases 2022-04-13 criteria provided, single submitter clinical testing The c.2503G>A (p.E835K) alteration is located in exon 19 (coding exon 19) of the COL7A1 gene. This alteration results from a G to A substitution at nucleotide position 2503, causing the glutamic acid (E) at amino acid position 835 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001826109 SCV002079286 uncertain significance Epidermolysis bullosa dystrophica 2020-05-06 no assertion criteria provided clinical testing

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