ClinVar Miner

Submissions for variant NM_032737.4(LMNB2):c.750G>C (p.Gln250His)

gnomAD frequency: 0.00004  dbSNP: rs758373595
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002146417 SCV002468148 benign Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to 2022-02-19 criteria provided, single submitter clinical testing

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