ClinVar Miner

Submissions for variant NM_212550.5(BLOC1S3):c.366C>T (p.His122=)

gnomAD frequency: 0.01592  dbSNP: rs571269735
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150192 SCV000197113 benign not specified 2015-08-06 criteria provided, single submitter clinical testing p.His122His in exon 2 of BLOC1S3: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1.7% (35/2034) o f European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs571269735).
PreventionGenetics, part of Exact Sciences RCV000150192 SCV000317278 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001515240 SCV001723271 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001515240 SCV001770285 likely benign not provided 2020-05-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000150192 SCV002065971 benign not specified 2018-08-06 criteria provided, single submitter clinical testing

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