ClinVar Miner

Submissions for variant NM_002458.3(MUC5B):c.15368C>T (p.Ala5123Val)

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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 RCV004227639 SCV003735727 uncertain significance not specified 2021-11-09 criteria provided, single submitter clinical testing The c.15368C>T (p.A5123V) alteration is located in exon 34 (coding exon 34) of the MUC5B gene. This alteration results from a C to T substitution at nucleotide position 15368, causing the alanine (A) at amino acid position 5123 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003427675 SCV004128916 benign not provided 2023-01-01 criteria provided, single submitter clinical testing MUC5B: BP4, BS1, BS2

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