ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.4408C>T (p.Arg1470Trp)

dbSNP: rs769297158
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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 RCV002541733 SCV003456253 likely benign not provided 2024-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035500 SCV004930035 uncertain significance Inborn genetic diseases 2023-12-17 criteria provided, single submitter clinical testing The c.4408C>T (p.R1470W) alteration is located in exon 41 (coding exon 41) of the COL7A1 gene. This alteration results from a C to T substitution at nucleotide position 4408, causing the arginine (R) at amino acid position 1470 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001280119 SCV001467272 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-10-16 no assertion criteria provided clinical testing

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