ClinVar Miner

Submissions for variant NC_000005.10:g.(?_87268442)_(87353245_?)del

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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 RCV000811353 SCV000951614 pathogenic Capillary malformation-arteriovenous malformation 1 2018-12-07 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 1-9 of the RASA1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 9 of the RASA1 gene. This is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001385465 SCV001585321 pathogenic Capillary malformation-arteriovenous malformation syndrome 2018-12-06 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 1-9 of the RASA1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 9 of the RASA1 gene. This is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.

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