ClinVar Miner

Submissions for variant NM_001394372.1(BICRA):c.4424G>A (p.Arg1475His)

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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 RCV004304915 SCV003963726 uncertain significance not specified 2023-05-17 criteria provided, single submitter clinical testing The c.4424G>A (p.R1475H) alteration is located in exon 15 (coding exon 13) of the GLTSCR1 gene. This alteration results from a G to A substitution at nucleotide position 4424, causing the arginine (R) at amino acid position 1475 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003883975 SCV004700795 benign not provided 2023-12-01 criteria provided, single submitter clinical testing BICRA: BS1, BS2

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