ClinVar Miner

Submissions for variant NM_017649.5(CNNM2):c.1804C>T (p.Arg602Ter)

dbSNP: rs2134338484
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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 RCV001420335 SCV001622755 likely pathogenic See cases 2021-04-26 criteria provided, single submitter clinical testing PVS1_very strong;PM2_supporting
Fulgent Genetics, Fulgent Genetics RCV002488234 SCV002791665 likely pathogenic Renal hypomagnesemia 6; Hypomagnesemia, seizures, and intellectual disability 1 2021-09-21 criteria provided, single submitter clinical testing

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