ClinVar Miner

Submissions for variant NR_003051.3(RMRP):n.-18_-8dup11

dbSNP: rs1230629953
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670025 SCV000794834 likely pathogenic Metaphyseal chondrodysplasia, McKusick type 2017-10-17 criteria provided, single submitter clinical testing

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