ClinVar Miner

Submissions for variant NM_001385012.1(NBEA):c.48C>G (p.Pro16=)

dbSNP: rs377255095
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000973503 SCV001121263 likely benign not provided 2018-06-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000973503 SCV005075290 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing NBEA: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences RCV003962906 SCV004779658 benign NBEA-related disorder 2019-08-28 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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