ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1191C>T (p.Pro397=)

gnomAD frequency: 0.00003  dbSNP: rs370226935
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001398943 SCV001600726 likely benign Severe neonatal-onset encephalopathy with microcephaly 2024-07-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883625 SCV004700999 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing MECP2: BP4, BP7

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