ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1137C>T (p.His379=)

gnomAD frequency: 0.00001  dbSNP: rs1336019373
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001641134 SCV001857741 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003523102 SCV004279865 likely benign Severe neonatal-onset encephalopathy with microcephaly 2024-01-08 criteria provided, single submitter clinical testing

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