ClinVar Miner

Submissions for variant NM_007046.4(EMILIN1):c.851C>T (p.Pro284Leu)

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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 RCV005334941 SCV005991210 uncertain significance Inborn genetic diseases 2025-03-07 criteria provided, single submitter clinical testing The c.851C>T (p.P284L) alteration is located in exon 4 (coding exon 4) of the EMILIN1 gene. This alteration results from a C to T substitution at nucleotide position 851, causing the proline (P) at amino acid position 284 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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