ClinVar Miner

Submissions for variant NC_000001.11:g.20661386A>C

gnomAD frequency: 0.00016  dbSNP: rs149951380
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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 RCV003074705 SCV003460504 likely benign Congenital disorder of glycosylation type Ir 2024-11-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004071690 SCV004855127 uncertain significance not specified 2024-01-04 criteria provided, single submitter clinical testing The c.16T>G (p.C6G) alteration is located in exon 1 (coding exon 1) of the DDOST gene. This alteration results from a T to G substitution at nucleotide position 16, causing the cysteine (C) at amino acid position 6 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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