ClinVar Miner

Submissions for variant NM_007046.4(EMILIN1):c.2650C>T (p.Pro884Ser)

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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 RCV004979740 SCV005575305 uncertain significance Inborn genetic diseases 2024-09-02 criteria provided, single submitter clinical testing The c.2650C>T (p.P884S) alteration is located in exon 7 (coding exon 7) of the EMILIN1 gene. This alteration results from a C to T substitution at nucleotide position 2650, causing the proline (P) at amino acid position 884 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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