ClinVar Miner

Submissions for variant NM_030805.4(LMAN2L):c.46C>A (p.Arg16=)

dbSNP: rs1028008100
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331705 SCV001523803 uncertain significance Intellectual disability, autosomal recessive 52 2020-06-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Breakthrough Genomics, Breakthrough Genomics RCV004692550 SCV005187814 uncertain significance not provided criteria provided, single submitter not provided

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