ClinVar Miner

Submissions for variant NM_000398.7(CYB5R3):c.245C>T (p.Ser82Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002983612 SCV003702822 uncertain significance Inborn genetic diseases 2022-04-07 criteria provided, single submitter clinical testing The c.245C>T (p.S82L) alteration is located in exon 4 (coding exon 4) of the CYB5R3 gene. This alteration results from a C to T substitution at nucleotide position 245, causing the serine (S) at amino acid position 82 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003143563 SCV003830363 uncertain significance Deficiency of cytochrome-b5 reductase 2023-10-19 criteria provided, single submitter clinical testing

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