ClinVar Miner

Submissions for variant NM_015909.4(NBAS):c.3164T>C (p.Leu1055Pro)

dbSNP: rs796052121
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761305 SCV000891282 likely pathogenic Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome 2018-07-16 criteria provided, single submitter clinical testing
OMIM RCV000186581 SCV000240157 pathogenic Infantile liver failure syndrome 2 2015-07-02 no assertion criteria provided literature only

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