ClinVar Miner

Submissions for variant NM_001478.5(B4GALNT1):c.1162_1164dup (p.Glu388dup)

gnomAD frequency: 0.00001  dbSNP: rs1333871469
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001249257 SCV001991810 uncertain significance not provided 2019-08-12 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In-frame insertion of 1 amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge
GenomeConnect, ClinGen RCV001249257 SCV001423199 not provided not provided no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 08-14-2019 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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