ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.443G>T (p.Arg148Leu)

dbSNP: rs376922578
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV001825275 SCV002075089 not provided 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 10-14-2017 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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