ClinVar Miner

Submissions for variant NM_007046.4(EMILIN1):c.299G>A (p.Arg100His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004979744 SCV005575309 uncertain significance Inborn genetic diseases 2024-10-01 criteria provided, single submitter clinical testing The c.299G>A (p.R100H) alteration is located in exon 3 (coding exon 3) of the EMILIN1 gene. This alteration results from a G to A substitution at nucleotide position 299, causing the arginine (R) at amino acid position 100 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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