ClinVar Miner

Submissions for variant NM_006610.4(MASP2):c.1617T>C (p.Asn539=)

gnomAD frequency: 0.01301  dbSNP: rs72550845
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000333994 SCV000347187 likely benign Immunodeficiency due to MASP-2 deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000260724 SCV000482911 likely benign Amyotrophic Lateral Sclerosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000316368 SCV000482912 likely benign Frontotemporal dementia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000963738 SCV001110910 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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