ClinVar Miner

Submissions for variant NM_005515.4(MNX1):c.852+1G>A

dbSNP: rs1563700419
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000015981 SCV002512470 likely pathogenic Currarino triad 2022-02-11 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 strong, PS4 supporting, PM2 moderate
OMIM RCV000015981 SCV000036248 pathogenic Currarino triad 2000-01-01 no assertion criteria provided literature only

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