ClinVar Miner

Submissions for variant NM_001017535.1(VDR):c.2T>C (p.Met1Thr) (rs2228570)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000280730 SCV000378929 benign Vitamin D-Dependent Rickets 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000601968 SCV000711761 benign not specified 2016-02-17 criteria provided, single submitter clinical testing This is a RefSeq error, the reference base (c.152T) is the minor allele. This a llele (T) has been identified in 48% (5540/11550) of Latino chromosomes by the E xome Aggregation Consortium (ExAC,; dbSNP rs22285 70) and thus meets the criteria to be classified as benign.
PharmGKB RCV000660794 SCV000783033 drug response peginterferon alfa-2b and ribavirin response - Efficacy 2017-03-01 reviewed by expert panel curation PharmGKB Level of Evidence 2A: Annotation for a variant-drug combination that qualifies for level 2B where the variant is within a VIP (Very Important Pharmacogene) as defined by PharmGKB. The variants in level 2A are in known pharmacogenes, so functional significance is more likely.

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