ClinVar Miner

Submissions for variant NM_033409.4(SLC52A3):c.1048T>A (p.Leu350Met) (rs76947760)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514570 SCV000609910 benign not provided 2017-05-03 criteria provided, single submitter clinical testing
GeneReviews RCV000191969 SCV000246224 pathogenic Brown-Vialetto-Van Laere syndrome 1 2015-03-17 no assertion criteria provided literature only
Invitae RCV000191969 SCV000657508 benign Brown-Vialetto-Van Laere syndrome 1 2017-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000604517 SCV000732042 benign not specified 2017-12-11 criteria provided, single submitter clinical testing p.Leu350Met in exon 3 of SLC52A3: This variant is not expected to have clinical significance because it has been identified in 5.3% (1269/24028) of African chro mosomes, including 40 homozygous individuals, by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs76947760). ACMG/AMP criteria applied: BA1, BP2, BP4, BP5.

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