ClinVar Miner

Submissions for variant NM_017909.4(RMND1):c.1049T>C (p.Met350Thr)

dbSNP: rs1582950315
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli RCV000824691 SCV000930706 uncertain significance Combined oxidative phosphorylation defect type 11 2019-07-10 criteria provided, single submitter clinical testing Seen in combination with c.1286A>T
Baylor Genetics RCV000824691 SCV001522893 uncertain significance Combined oxidative phosphorylation defect type 11 2019-02-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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